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Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
BACKGROUND: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was establis...
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| Publicat a: | BMC Med Genet |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5472882/ https://ncbi.nlm.nih.gov/pubmed/28619046 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0429-0 |
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