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Select item 46343741.

FGFR2 mutation in 46,XY sex reversal with craniosynostosis

Stefan Bagheri-Fam, Makoto Ono, Li Li, Liang Zhao, Janelle Ryan, Raymond Lai, Yukako Katsura, Fernando J. Rossello, Peter Koopman, Gerd Scherer, Oliver Bartsch, Jacob V.P. Eswarakumar, Vincent R. Harley

Hum Mol Genet. 2015 Dec 1; 24(23): 6699–6710. Published online 2015 Sep 11. doi: 10.1093/hmg/ddv374

PMCID:: PMC4634374

Abstract Article PDF–835K

Select item 44634972.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard-Hernández, Julia Berges-Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez-Carrizosa, Sara Benito-Sanz, Eva López-Messa, Fernando Santos, Ignacio I García-Recuero, Ana Romance, Juliana María Ballesta-Martínez, Vanesa López-González, Ángel Campos-Barros, Jaime Cruz, Encarna Guillén-Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García-Miñaur, Karen E Heath

Eur J Hum Genet. 2015 Jul; 23(7): 907–914. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.205

PMCID:: PMC4463497

Abstract Article PDF–666K

Select item 41405653.

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

Omar A. Ibrahimi, Fuming Zhang, Anna V. Eliseenkova, Nobuyuki Itoh, Robert J. Linhardt, Moosa Mohammadi

Hum Mol Genet. Author manuscript; available in PMC 2014 Aug 21.

Published in final edited form as: Hum Mol Genet. 2004 Oct 1; 13(19): 2313–2324. Published online 2004 Jul 28. doi: 10.1093/hmg/ddh235

PMCID:: PMC4140565

Abstract Article PDF–679K

Select item 38529234.

Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Kerstin B. Meyer, Martin O’Reilly, Kyriaki Michailidou, Saskia Carlebur, Stacey L. Edwards, Juliet D. French, Radhika Prathalingham, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ines de Santiago, John L. Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Laura J. Van ’t Veer, Frans B. Hogervorst, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Peter A. Fasching, Michael P. Lux, Arif B. Ekici, Matthias W. Beckmann, Julian Peto, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Federick Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Thérèse Truong, Pierre Laurent-Puig, Florence Menegaux, Stig E. Bojesen, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, M. Pilar Zamora, Jose I. Arias, Javier Benitez, Susan Neuhausen, Hoda Anton-Culver, Argyrios Ziogas, Christina C. Dur, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Rita K. Schmutzler, Christoph Engel, Nina Ditsch, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, The GENICA Network, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Thilo Dörk, Sonja Helbig, Natalia V. Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Georgia Chenevix-Trench, kConFab Investigators, Australian Ovarian Cancer Study Group, Anna H. Wu, Chiu-chen Tseng, David Van Den Berg, Daniel O. Stram, Diether Lambrechts, Bernard Thienpont, Marie-Rose Christiaens, Ann Smeets, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Kristen Purrington, Graham G. Giles, Gianluca Severi, Laura Baglietto, Catriona McLean, Christopher A. Haiman, Brian E. Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S. Goldberg, France Labrèche, Martine Dumont, Soo-Hwang Teo, Cheng-Har Yip, Sze-Yee Phuah, Vessela Kristensen, Grethe Grenaker Alnæs, Anne-Lise Børresen-Dale, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Montserrat García-Closas, Jonine Figueroa, Stephen J. Chanock, Jolanta Lissowska, Kamila Czene, Hartef Darabi, Kimael Eriksson, Maartje J. Hooning, John W.M. Martens, Ans M.W. van den Ouweland, Carolien H.M. van Deurzen, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Xiao-Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Angela Cox, Malcolm W.R. Reed, William Blot, Lisa B. Signorello, Qiuyin Cai, Paul D.P. Pharoah, Maya Ghoussaini, Patricia Harrington, Jonathan Tyrer, Daehee Kang, Ji-Yeob Choi, Sue K. Park, Dong-Young Noh, Mikael Hartman, Miao Hui, Wei-Yen Lim, Shaik A. Buhari, Ute Hamann, Asta Försti, Thomas Rüdiger, Hans-Ulrich Ulmer, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, Celine Vachon, Susan Slager, Florentia Fostira, Robert Pilarski, Chen-Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Ming-Feng Hou, Anthony Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Bruce A.J. Ponder, Alison M. Dunning, Douglas F. Easton

Am J Hum Genet. 2013 Dec 5; 93(6): 1046–1060. doi: 10.1016/j.ajhg.2013.10.026

PMCID:: PMC3852923

Abstract Article PDF–1.8M

Select item 34931325.

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

David J. Hunter, Peter Kraft, Kevin B. Jacobs, David G. Cox, Meredith Yeager, Susan E. Hankinson, Sholom Wacholder, Zhaoming Wang, Robert Welch, Amy Hutchinson, Kai Yu, Nilanjan Chatterjee, Nick Orr, Walter C. Willett, Graham A. Colditz, Regina G. Ziegler, Christine D. Berg, Saundra S. Buys, Catherine A. McCarty, Heather Spencer Feigelson, Eugenia E. Calle, Michael J. Thun, Richard B. Hayes, Margaret Tucker, Daniela S. Gerhard, Joseph F. Fraumeni, Jr., Robert N. Hoover, Gilles Thomas, Stephen J Chanock

Nat Genet. Author manuscript; available in PMC 2012 Nov 8.

Published in final edited form as: Nat Genet. 2007 Jul; 39(7): 870–874. Published online 2007 May 27. doi: 10.1038/ng2075

PMCID:: PMC3493132

Abstract Article PDF–1.7M

Select item 33091956.

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Amy E. Merrill, Anna Sarukhanov, Pavel Krejci, Brian Idoni, Natalia Camacho, Kristine D. Estrada, Karen M. Lyons, Hannah Deixler, Haynes Robinson, David Chitayat, Cynthia J. Curry, Ralph S. Lachman, William R. Wilcox, Deborah Krakow

Am J Hum Genet. 2012 Mar 9; 90(3): 550–557. doi: 10.1016/j.ajhg.2012.02.005

PMCID:: PMC3309195

Abstract Article PDF–1.5M

Select item 28715957.

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

PM Pollock, MG Gartside, LC Dejeza, MA Powell, MA Mallon, Cancer Genome Project, H Davies, M Mohammadi, PA Futreal, MR Stratton, JM Trent, PJ Goodfellow

Oncogene. Author manuscript; available in PMC 2010 May 17.

Published in final edited form as: Oncogene. 2007 Nov 1; 26(50): 7158–7162. Published online 2007 May 21. doi: 10.1038/sj.onc.1210529

PMCID:: PMC2871595

Abstract Article PDF–92K

Select item 27854358.

Novel FGFR2 Deletion in Patient with Beare-Stevenson-like Syndrome

Anne Slavotinek, Howard Crawford, Mahin Golabi, Cathy Tao, Hazel Perry, Sneha Oberoi, Karin Vargevik, Michael Friez

Am J Med Genet A. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Am J Med Genet A. 2009 Aug; 149A(8): 1814–1817. doi: 10.1002/ajmg.a.32947

PMCID:: PMC2785435

Article PDF–449K

Select item 27338179.

FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation

Miriam S. Udler, Kerstin B. Meyer, Karen A. Pooley, Eric Karlins, Jeffery P. Struewing, Jinghui Zhang, David R. Doody, Stewart MacArthur, Jonathan Tyrer, Paul D. Pharoah, Robert Luben, SEARCH Collaborators, Leslie Bernstein, Laurence N. Kolonel, Brian E. Henderson, Loic Le Marchand, Giske Ursin, Michael F. Press, Paul Brennan, Suleeporn Sangrajrang, Valerie Gaborieau, Fabrice Odefrey, Chen-Yang Shen, Pei-Ei Wu, Hui-Chun Wang, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Bruce A.J. Ponder, Christopher A. Haiman, Kathleen E. Malone, Alison M. Dunning, Elaine A. Ostrander, Douglas F. Easton

Hum Mol Genet. 2009 May 1; 18(9): 1692–1703. Published online 2009 Feb 17. doi: 10.1093/hmg/ddp078

PMCID:: PMC2733817

Abstract Article PDF–267K

Select item 271497410.

Genome-wide association study identifies novel breast cancer susceptibility loci

Douglas F. Easton, Karen A. Pooley, Alison M. Dunning, Paul D. P. Pharoah, Deborah Thompson, Dennis G. Ballinger, Jeffery P. Struewing, Jonathan Morrison, Helen Field, Robert Luben, Nicholas Wareham, Shahana Ahmed, Catherine S. Healey, Richard Bowman, the SEARCH collaborators, Kerstin B. Meyer, Christopher A. Haiman, Laurence K. Kolonel, Brian E. Henderson, Loic Le Marchand, Paul Brennan, Suleeporn Sangrajrang, Valerie Gaborieau, Fabrice Odefrey, Chen-Yang Shen, Pei-Ei Wu, Hui-Chun Wang, Diana Eccles, D. Gareth Evans, Julian Peto, Olivia Fletcher, Nichola Johnson, Sheila Seal, Michael R. Stratton, Nazneen Rahman, Georgia Chenevix-Trench, Stig E. Bojesen, Børge G. Nordestgaard, Christen K. Axelsson, Montserrat Garcia-Closas, Louise Brinton, Stephen Chanock, Jolanta Lissowska, Beata Peplonska, Heli Nevanlinna, Rainer Fagerholm, Hannaleena Eerola, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, David J. Hunter, Susan E. Hankinson, David G. Cox, Per Hall, Sara Wedren, Jianjun Liu, Yen-Ling Low, Natalia Bogdanova, Peter Schürmann, Thilo Dörk, Rob A. E. M. Tollenaar, Catharina E. Jacobi, Peter Devilee, Jan G. M. Klijn, Alice J. Sigurdson, Michele M. Doody, Bruce H. Alexander, Jinghui Zhang, Angela Cox, Ian W. Brock, Gordon MacPherson, Malcolm W. R. Reed, Fergus J. Couch, Ellen L. Goode, Janet E. Olson, Hanne Meijers-Heijboer, Ans van den Ouweland, André Uitterlinden, Fernando Rivadeneira, Roger L. Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, John L. Hopper, Margaret McCredie, Melissa Southey, Graham G. Giles, Chris Schroen, Christina Justenhoven, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing Chen, kConFab, AOCS Management Group, Arto Mannermaa, Veli-Matti Kosma, Vesa Kataja, Jaana Hartikainen, Nicholas E. Day, David R. Cox, Bruce A. J. Ponder, Craig Luccarini, Don Conroy, Mitul Shah, Hannah Munday, Clare Jordan, Barbara Perkins, Judy West, Karen Redman, Kristy Driver, Morteza Aghmesheh, David Amor, Lesley Andrews, Yoland Antill, Jane Armes, Shane Armitage, Leanne Arnold, Rosemary Balleine, Glenn Begley, John Beilby, Ian Bennett, Barbara Bennett, Geoffrey Berry, Anneke Blackburn, Meagan Brennan, Melissa Brown, Michael Buckley, Jo Burke, Phyllis Butow, Keith Byron, David Callen, Ian Campbell, Georgia Chenevix-Trench, Christine Clarke, Alison Colley, Dick Cotton, Jisheng Cui, Bronwyn Culling, Margaret Cummings, Sarah-Jane Dawson, Joanne Dixon, Alexander Dobrovic, Tracy Dudding, Ted Edkins, Maurice Eisenbruch, Gelareh Farshid, Susan Fawcett, Michael Field, Frank Firgaira, Jean Fleming, John Forbes, Michael Friedlander, Clara Gaff, Mac Gardner, Mike Gattas, Peter George, Graham Giles, Grantley Gill, Jack Goldblatt, Sian Greening, Scott Grist, Eric Haan, Marion Harris, Stewart Hart, Nick Hayward, John Hopper, Evelyn Humphrey, Mark Jenkins, Alison Jones, Rick Kefford, Judy Kirk, James Kollias, Sergey Kovalenko, Sunil Lakhani, Jennifer Leary, Jacqueline Lim, Geoff Lindeman, Lara Lipton, Liz Lobb, Mariette Maclurcan, Graham Mann, Deborah Marsh, Margaret McCredie, Michael McKay, Sue Anne McLachlan, Bettina Meiser, Roger Milne, Gillian Mitchell, Beth Newman, Imelda O'Loughlin, Richard Osborne, Lester Peters, Kelly Phillips, Melanie Price, Jeanne Reeve, Tony Reeve, Robert Richards, Gina Rinehart, Bridget Robinson, Barney Rudzki, Elizabeth Salisbury, Joe Sambrook, Christobel Saunders, Clare Scott, Elizabeth Scott, Rodney Scott, Ram Seshadri, Andrew Shelling, Melissa Southey, Amanda Spurdle, Graeme Suthers, Donna Taylor, Christopher Tennant, Heather Thorne, Sharron Townshend, Kathy Tucker, Janet Tyler, Deon Venter, Jane Visvader, Ian Walpole, Robin Ward, Paul Waring, Bev Warner, Graham Warren, Elizabeth Watson, Rachael Williams, Judy Wilson, Ingrid Winship, Mary Ann Young, David Bowtell, Adele Green, Anna deFazio, Georgia Chenevix-Trench, Dorota Gertig, Penny Webb

Nature. Author manuscript; available in PMC 2009 Jul 24.

Published in final edited form as: Nature. 2007 Jun 28; 447(7148): 1087–1093. doi: 10.1038/nature05887

PMCID:: PMC2714974

Abstract Article PDF–1.1M

Select item 270133311.

The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects

Sara Ota, Zi-Qiang Zhou, Jason M. Link, Peter J. Hurlin

Hum Mol Genet. 2009 Jul 15; 18(14): 2609–2621. Published online 2009 Apr 29. doi: 10.1093/hmg/ddp195

PMCID:: PMC2701333

Abstract Article PDF–770K

Select item 243839112.

Drug-sensitive FGFR2 mutations in endometrial carcinoma

Amit Dutt, Helga B. Salvesen, Tzu-Hsiu Chen, Alex H. Ramos, Robert C. Onofrio, Charlie Hatton, Richard Nicoletti, Wendy Winckler, Rupinder Grewal, Megan Hanna, Nicolas Wyhs, Liuda Ziaugra, Daniel J. Richter, Jone Trovik, Ingeborg B. Engelsen, Ingunn M. Stefansson, Tim Fennell, Kristian Cibulskis, Michael C. Zody, Lars A. Akslen, Stacey Gabriel, Kwok-Kin Wong, William R. Sellers, Matthew Meyerson, Heidi Greulich

Proc Natl Acad Sci U S A. 2008 Jun 24; 105(25): 8713–8717. Published online 2008 Jun 13. doi: 10.1073/pnas.0803379105

PMCID:: PMC2438391

Abstract Article PDF–514K

Select item 242721713.

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Antonis C. Antoniou, Amanda B. Spurdle, Olga M. Sinilnikova, Sue Healey, Karen A. Pooley, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Wera Hofmann, Christian Sutter, Dieter Niederacher, Helmut Deissler, Trinidad Caldes, Kati Kämpjärvi, Heli Nevanlinna, Jacques Simard, Jonathan Beesley, Xiaoqing Chen, the Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Susan L. Neuhausen, Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Claudine Isaacs, Jeffrey Weitzel, Patricia A. Ganz, Mary B. Daly, Gail Tomlinson, Olufunmilayo I. Olopade, Joanne L. Blum, Fergus J. Couch, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Paolo Radice, Csilla I. Szabo, Lutecia H. Mateus Pereira, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Ofra Barnett-Griness, Irene L. Andrulis, Hilmi Ozcelik, OCGN, Anne-Marie Gerdes, Maria A. Caligo, Yael Laitman, Bella Kaufman, Roni Milgrom, Eitan Friedman, The Swedish BRCA1 and BRCA2 study collaborators, Susan M. Domchek, Katherine L. Nathanson, Ana Osorio, Gemma Llort, Roger L. Milne, Javier Benítez, Ute Hamann, Frans B.L. Hogervorst, Peggy Manders, Marjolijn J.L. Ligtenberg, Ans M.W. van den Ouweland, The DNA-HEBON collaborators, Susan Peock, Margaret Cook, Radka Platte, D. Gareth Evans, Rosalind Eeles, Gabriella Pichert, Carol Chu, Diana Eccles, Rosemarie Davidson, Fiona Douglas, EMBRACE, Andrew K. Godwin, Laure Barjhoux, Sylvie Mazoyer, Hagay Sobol, Violaine Bourdon, François Eisinger, Agnès Chompret, Corinne Capoulade, Brigitte Bressac-de Paillerets, Gilbert M. Lenoir, Marion Gauthier-Villars, Claude Houdayer, Dominique Stoppa-Lyonnet, GEMO, Georgia Chenevix-Trench, Douglas F. Easton, on behalf of CIMBA

Am J Hum Genet. 2008 Apr 11; 82(4): 937–948. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.02.008

PMCID:: PMC2427217

Abstract Article PDF–420K

Select item 214837914.

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

Erin D. Lew, Jae Hyun Bae, Edyta Rohmann, Bernd Wollnik, Joseph Schlessinger

Proc Natl Acad Sci U S A. 2007 Dec 11; 104(50): 19802–19807. Published online 2007 Dec 3. doi: 10.1073/pnas.0709905104

PMCID:: PMC2148379

Abstract Article PDF–987K

Select item 203425115.

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination

Yuna Kim, Nathan Bingham, Ryohei Sekido, Keith L. Parker, Robin Lovell-Badge, Blanche Capel

Proc Natl Acad Sci U S A. 2007 Oct 16; 104(42): 16558–16563. Published online 2007 Oct 10. doi: 10.1073/pnas.0702581104

PMCID:: PMC2034251

Abstract Article PDF–1.0M

Select item 191461616.

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

S. F. Slaney, M. Oldridge, J. A. Hurst, G. M. Moriss-Kay, C. M. Hall, M. D. Poole, A. O. Wilkie

Am J Hum Genet. 1996 May; 58(5): 923–932.

PMCID:: PMC1914616

Summary Page Browse PDF–2.2M

Select item 191456217.

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

G. A. Meyers, D. Day, R. Goldberg, D. L. Daentl, K. A. Przylepa, L. J. Abrams, J. M. Graham, Jr, M. Feingold, J. B. Moeschler, E. Rawnsley, A. F. Scott, E. W. Jabs

Am J Hum Genet. 1996 Mar; 58(3): 491–498.

PMCID:: PMC1914562

Summary Page Browse PDF–1.5M

Select item 181050818.

Impaired FGF signaling contributes to cleft lip and palate

Bridget M. Riley, M. Adela Mansilla, Jinghong Ma, Sandra Daack-Hirsch, Brion S. Maher, Lisa M. Raffensperger, Erilynn T. Russo, Alexandre R. Vieira, Catherine Dodé, Moosa Mohammadi, Mary L. Marazita, Jeffrey C. Murray

Proc Natl Acad Sci U S A. 2007 Mar 13; 104(11): 4512–4517. Published online 2007 Mar 6. doi: 10.1073/pnas.0607956104

PMCID:: PMC1810508

Abstract Article PDF–1.7M

Select item 173611419.

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

G McGillivray, R Savarirayan, T Cox, C Stojkoski, R McNeil, A Bankier, J Bateman, T Roscioli, R Gardner, S Lamande

J Med Genet. 2005 Aug; 42(8): 656–662. doi: 10.1136/jmg.2004.027888

PMCID:: PMC1736114

Summary PDF–393K

Select item 173587520.

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A→G)

R Kan, S Twigg, J Berg, L Wang, F Jin, A Wilkie

J Med Genet. 2004 Aug; 41(8): e108. doi: 10.1136/jmg.2004.018507

PMCID:: PMC1735875

Summary PDF–235K

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