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...

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Detalles Bibliográficos
Autores principales: Lin, Yao, Yin, Wei, Bian, Zhuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2017
Materias:
Genetics
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

Internet

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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