GENETICS IN MEDICINE, vol.21, no.3, pp.545-552, 2019 (Journal Indexed in SCI)
Article / Article
Title of Journal :
GENETICS IN MEDICINE
autozygome, primary microcephaly, dwarfism, CNTRL, TRANSFER-RNA, INTELLECTUAL DISABILITY, RECESSIVE MUTATIONS, TRUNCATING MUTATION, MECHANISMS, FAMILIES, CEP135, GENE, FORM
Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.