Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the PORCN gene have been described to cause F...

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Bibliografski detalji
Glavni autori: Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane, Steiner, Bernhard, Wieczorek, Dagmar, Zenker, Martin, Kutsche, Kerstin
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986635/
https://ncbi.nlm.nih.gov/pubmed/19277062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.40
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