Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Swathi Sunil Rao, Rathika D. Shenoy, Smrithi Salian, Katta M. Girisha

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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.

Original languageEnglish
Number of pages1
JournalIndian Journal of Dermatology
Issue number6
Publication statusPublished - 01-11-2016


All Science Journal Classification (ASJC) codes

  • Dermatology

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