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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
BACKGROUND: Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous studies in families of Asian descent suggest that the severity of the phenoty...
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| 出版年: | Mol Cytogenet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5584047/ https://ncbi.nlm.nih.gov/pubmed/28878824 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0334-4 |
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