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Focal Dermal Hypoplasia with a De novo Mutation p.E300* 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.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the firs...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302/ https://www.ncbi.nlm.nih.gov/pubmed/27904205 http://dx.doi.org/10.4103/0019-5154.193712 |