Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.
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SUBMITTER: Rao SS
PROVIDER: S-EPMC5122302 | biostudies-literature | 2016 Nov-Dec
REPOSITORIES: biostudies-literature
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Focal Dermal Hypoplasia with a <i>De novo</i> Mutation p.E300* of <i>PORCN</i> Gene in a Male Infant.
Rao Swathi Sunil SS Shenoy Rathika D RD Salian Smrithi S Girisha Katta M KM
Indian journal of dermatology 20161101 6
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 <i>de novo</i> mutation p.E300* in exon 10 of <i>PORCN</i> gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent. ...[more]
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