Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome-Reference-Cited by-同舟云学术

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Published:2018-01-12 Issue:3 Volume:26 Page:340-349
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Alessandri Jean-Luc,Gordon Christopher T.^ORCID,Jacquemont Marie-Line,Gruchy Nicolas,Ajeawung Norbert F,Benoist Guillaume,Oufadem Myriam,Chebil Asma,Duffourd Yannis,Dumont Coralie,Gérard Marion,Kuentz Paul^ORCID,Jouan Thibaud,Filippini Francesca,Nguyen Thi Tuyet Mai,Alibeu Olivier,Bole-Feysot Christine,Nitschké Patrick,Omarjee Asma,Ramful Duksha,Randrianaivo Hanitra,Doray Bérénice,Faivre Laurence,Amiel Jeanne,Campeau Philippe M.,Thevenon Julien

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0087-x.pdf

Reference27 articles.

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2. Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnosis guidelines. Am J Med Genet. 2004;124A:427–33.

3. Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005;139:186–93.

4. Slavotinek A, Lee SS, Davis R, et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005;42:730–6.

5. Bone KM, Chernos JE, Perrier R, et al. Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnosis challenge and is associated with a Fryns-like phenotype. Prenat Diag. 2017;37:602–10.

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