Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.

ABSTRACT: Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

SUBMITTER: Rao SS 

PROVIDER: S-EPMC5122302 | biostudies-literature | 2016 Nov-Dec

REPOSITORIES: biostudies-literature