Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Indian Journal of Dermatology |
| Subjects: | |
| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=6;spage=700;epage=700;aulast=Rao |