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 mutation p.E300* in exon 10 of gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302 | PMC |
| http://dx.doi.org/10.4103/0019-5154.193712 | DOI Listing |
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