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Mutation detection and prenatal diagnosis of XLHED pedigree
BACKGROUND: The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED. METHODS: The current study reported a large Chinese XLHED pedigree. The genomic DNA of adu...
Autores principales: | Lin, Yao, Yin, Wei, Bian, Zhuan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578367/ https://www.ncbi.nlm.nih.gov/pubmed/28875069 http://dx.doi.org/10.7717/peerj.3691 |
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