Salian, Smrithi and Girisha, KM (2016) Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. Indian Journal of Dermatology, Venereology, and Leprology, 61 (6). pp. 1-3. ISSN 0378-6323

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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.

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