Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype

BACKGROUND: We report on two brothers with a distinct syndromic phenotype and explore the potential pathogenic cause. METHODS: Cytogenetic tests and exome sequencing were performed on the two brothers and their parents. Variants detected by exome sequencing were validated by Sanger sequencing. RESUL...

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Detalles Bibliográficos
Autores principales: Zhang, Yanliang, Liu, Yanhui, Li, Ya, Duan, Yong, Zhang, Keyun, Wang, Junwang, Dai, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355004/
https://www.ncbi.nlm.nih.gov/pubmed/25234129
http://dx.doi.org/10.1186/s12881-014-0105-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355004/
https://www.ncbi.nlm.nih.gov/pubmed/25234129
http://dx.doi.org/10.1186/s12881-014-0105-6

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