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A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
Approximately 10–15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings with microcephaly and suspected XLID with an unknown genetic basis revealed that they...
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| Publicado en: | Biomed Rep |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
D.A. Spandidos
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4733959/ https://ncbi.nlm.nih.gov/pubmed/26893841 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2015.559 |
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