Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
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. MR...
BMC Medical Genetics 2017 18:68
Published on: 15 June 2017