Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia-Reference-Cited by-同舟云学术

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Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Published:2014-07-16 Issue:4 Volume:23 Page:551-554
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Brady Paul D,Van Esch Hilde,Fieremans Nathalie,Froyen Guy,Slavotinek Anne,Deprest Jan,Devriendt Koenraad,Vermeesch Joris R

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014135.pdf

Reference28 articles.

1. Kallen B, Robert E, Harris J : The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 1996; 25: 1009–1016.

2. Stoll C, Dott B, Alembik Y, Roth MP : Associated malformations among infants with anophthalmia and microphthalmia. Birth Defects Res A Clin Mol Teratol 2012; 94: 147–152.

3. Pasutto F, Sticht H, Hammersen G et al: Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007; 80: 550–560.

4. Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL : Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol 2008; 25: 548–552.

5. Maas SM, Lombardi MP, van Essen AJ et al: Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet 2009; 46: 716–720.

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