Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Author:

Smigiel Robert,Bezniakow Natalia,Jakubiak Aleksandra,Błoch Michał,Patkowski Dariusz,Obersztyn Ewa,Sasiadek Maria M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference12 articles.

1. Gandomi SK, Parra M, Reeves D, Yap V, Gau CL (2013) Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. Clin Genet. doi: 10.1111/cge.12328

2. Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J (2012) EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet 49(12):737–746

3. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Júnior A (2006) A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol 15(3):171–174

4. Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM (2009) Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? Am J Med Genet A 149A(12):2762–2764

5. Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J (2014) Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat 35(4):478–485

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