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

• 主要な著者: Swathi Sunil Rao (著者), Rathika D Shenoy (著者), Smrithi Salian (著者), Katta M Girisha (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the...