Article
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
European journal of human genetics : EJHG - 1 Oct 2009
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
Abstract excerpt
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 FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another...
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