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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| 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 |