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

• Main Authors: Fatma Bastaki (Author), Pratibha Nair (Author), Madiha Mohamed (Author), Ethar Mustafa Malik (Author), Mustafa Helmi (Author), Mahmoud Taleb Al-Ali (Author), Abdul Rezzak Hamzeh (Author)
• Format: Book
• Published: BMC, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...