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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Detalles Bibliográficos
Autores principales: Bastaki, Fatma, Nair, Pratibha, Mohamed, Madiha, Malik, Ethar Mustafa, Helmi, Mustafa, Al-Ali, Mahmoud Taleb, Hamzeh, Abdul Rezzak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472882/
https://www.ncbi.nlm.nih.gov/pubmed/28619046
http://dx.doi.org/10.1186/s12881-017-0429-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472882/
https://www.ncbi.nlm.nih.gov/pubmed/28619046
http://dx.doi.org/10.1186/s12881-017-0429-0

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