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
![]() |
PDF
1640 DisplayPdf.pdf - Published Version Restricted to Registered users only Download (1MB) | Request a copy |
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.
Item Type: | Article |
---|---|
Uncontrolled Keywords: | Blaschko lines; Ectrodactyly; Mosaicism |
Subjects: | Medicine > KMC Manipal > Paediatrics |
Depositing User: | KMC Library |
Date Deposited: | 17 Dec 2016 08:48 |
Last Modified: | 17 Dec 2016 08:48 |
URI: | http://eprints.manipal.edu/id/eprint/147741 |
Actions (login required)
![]() |
View Item |