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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Number of pages1
JournalIndian Journal of Dermatology
Volume61
Issue number6
DOIs
Publication statusPublished - 01-11-2016

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this