Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report

• Autori principali: Fatma Bastaki (Autore), Pratibha Nair (Autore), Madiha Mohamed (Autore), Ethar Mustafa Malik (Autore), Mustafa Helmi (Autore), Mahmoud Taleb Al-Ali (Autore), Abdul Rezzak Hamzeh (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2017-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract 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...