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Article: Research from S.M. Maas and co-researchers in the area of basal cell nevus syndrome published.
- Article from:
- Obesity, Fitness & Wellness Week
- Article date:
- November 14, 2009
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According to recent research published in the Journal of Medical Genetics, "Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome."
"A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. In 14 patients (13 females and one male), a PORCN mutation was found. Mutations included nonsense (n = 5), frameshift (n = 2), aberrant splicing (n = 2) and missense (n = 5) mutations. No genotype-phenotype correlation was found. All ...