PMC Articles for MedGen (Select 867268) - PMC

Select item 109066941.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Select item 79331062.

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features

Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver

Clin Dysmorphol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347

PMCID:: PMC7933106

Abstract Article PDF–476K

Select item 63357813.

p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Lu Shen, Gang Ma, Ye Shi, Yunfeng Ruan, Xuhan Yang, Xi Wu, Yuyu Xiong, Chunling Wan, Chao Yang, Lei Cai, Likuan Xiong, Xueli Gong, Lin He, Shengying Qin

BMC Genet. 2019; 20: 10. Published online 2019 Jan 16. doi: 10.1186/s12863-018-0697-5

PMCID:: PMC6335781

Abstract Article PDF–790K

Select item 43959684.

HOXA genes cluster: clinical implications of the smallest deletion

Lidia Pezzani, Donatella Milani, Francesca Manzoni, Marco Baccarin, Rosamaria Silipigni, Silvana Guerneri, Susanna Esposito

Ital J Pediatr. 2015; 41: 31. Published online 2015 Apr 10. doi: 10.1186/s13052-015-0137-3

PMCID:: PMC4395968

Abstract Article PDF–2.1M

Select item 35896435.

Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement

Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong

Ann Lab Med. 2013 Mar; 33(2): 150–152. Published online 2013 Feb 21. doi: 10.3343/alm.2013.33.2.150

PMCID:: PMC3589643

Abstract Article PDF–474K

Select item 25645156.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner‐Eidenböck, D L Rimoin, L Siderius, A Superti‐Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier

J Med Genet. 2006 May; 43(5): 406–413. Published online 2005 Sep 9. doi: 10.1136/jmg.2005.035717

PMCID:: PMC2564515

Abstract Article PDF–620K

Select item 10134157.

Pfeiffer syndrome: report of a family and review of the literature.

Y Naveh, A Friedman

J Med Genet. 1976 Aug; 13(4): 277–280. doi: 10.1136/jmg.13.4.277

PMCID:: PMC1013415

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