Etiology
Maillard C,
Roux CJ,
Charbit-Henrion F,
Steffann J,
Laquerriere A,
Quazza F,
Buisson NB
Semin Cell Dev Biol
2023 Mar 15;137:87-95.
Epub 2022 Jul 30
doi: 10.1016/j.semcdb.2022.07.009.
PMID: 35915025
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Seifi M,
Walter MA
Clin Genet
2018 Jun;93(6):1123-1130.
Epub 2018 Jan 25
doi: 10.1111/cge.13148.
PMID: 28972279
Le Goff C,
Michot C,
Cormier-Daire V
Clin Genet
2014 Jun;85(6):503-13.
Epub 2014 Apr 2
doi: 10.1111/cge.12365.
PMID: 24580733
Turner AM
J Paediatr Child Health
2014 Oct;50(10):E14-20.
Epub 2011 Jul 19
doi: 10.1111/j.1440-1754.2010.01970.x.
PMID: 21771153
Diagnosis
Szczawińska-Popłonyk A,
Schwartzmann E,
Chmara Z,
Głukowska A,
Krysa T,
Majchrzycki M,
Olejnicki M,
Ostrowska P,
Babik J
Int J Mol Sci
2023 May 5;24(9)
doi: 10.3390/ijms24098317.
PMID: 37176024Free PMC Article
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
doi: 10.3390/genes14020465.
PMID: 36833393Free PMC Article
Boniel S,
Szymańska K,
Śmigiel R,
Szczałuba K
Genes (Basel)
2021 Mar 25;12(4)
doi: 10.3390/genes12040468.
PMID: 33805950Free PMC Article
Saleem AA,
Siddiqui SN
J Coll Physicians Surg Pak
2015 Oct;25 Suppl 2:S124-6.
doi: 10.2015/JCPSP.S124S126.
PMID: 26522198
Kalaydjieva L
Orphanet J Rare Dis
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
PMID: 16939648Free PMC Article
Therapy
Takao S,
Fukushima H,
King AP,
Kato T,
Furusawa A,
Okuyama S,
Kano M,
Choyke PL,
Escorcia FE,
Kobayashi H
Cancer Sci
2023 Dec;114(12):4654-4663.
Epub 2023 Oct 10
doi: 10.1111/cas.15965.
PMID: 37817415Free PMC Article
Iafusco D,
Zanfardino A,
Bonfanti R,
Rabbone I,
Tinto N,
Iafusco F,
Meola S,
Gicchino MF,
Ozen G,
Casaburo F,
Piscopo A,
Miraglia Del Giudice E,
Barbetti F
Minerva Pediatr
2020 Aug;72(4):240-249.
Epub 2020 Apr 9
doi: 10.23736/S0026-4946.20.05838-7.
PMID: 32274916
Finsterer J
Orphanet J Rare Dis
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
PMID: 30808424Free PMC Article
Mutlu-Albayrak H,
Bulut C,
Çaksen H
Pediatr Neonatol
2017 Apr;58(2):158-164.
Epub 2016 Jun 17
doi: 10.1016/j.pedneo.2016.01.009.
PMID: 27422007
Hong R
Clin Rev Allergy Immunol
2001 Feb;20(1):43-60.
doi: 10.1385/CRIAI:20:1:43.
PMID: 11269228
Prognosis
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Izumi K,
Krantz ID
Am J Med Genet C Semin Med Genet
2014 Dec;166C(4):406-13.
Epub 2014 Nov 25
doi: 10.1002/ajmg.c.31423.
PMID: 25425112
Le Goff C,
Michot C,
Cormier-Daire V
Clin Genet
2014 Jun;85(6):503-13.
Epub 2014 Apr 2
doi: 10.1111/cge.12365.
PMID: 24580733
Turner AM
J Paediatr Child Health
2014 Oct;50(10):E14-20.
Epub 2011 Jul 19
doi: 10.1111/j.1440-1754.2010.01970.x.
PMID: 21771153
Clinical prediction guides
Gavril EC,
Nucă I,
Pânzaru MC,
Ivanov AV,
Mihai CT,
Antoci LM,
Ciobanu CG,
Rusu C,
Popescu R
Genes (Basel)
2023 Feb 11;14(2)
doi: 10.3390/genes14020465.
PMID: 36833393Free PMC Article
Fabre A,
Martinez-Vinson C,
Goulet O,
Badens C
Orphanet J Rare Dis
2013 Jan 9;8:5.
doi: 10.1186/1750-1172-8-5.
PMID: 23302111Free PMC Article
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087
Kalaydjieva L
Orphanet J Rare Dis
2006 Aug 29;1:32.
doi: 10.1186/1750-1172-1-32.
PMID: 16939648Free PMC Article
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article