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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Bastaki, Fatma, Nair, Pratibha, Mohamed, Madiha, Malik, Ethar Mustafa, Helmi, Mustafa, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha: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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