Genomic and phenotypic delineation of congenital microcephaly


Shaheen R., Alkuraya F. S. , Maddirevula S., Ewida N., Alsahli S., Abdel-Salam G. M. H. , ...More

GENETICS IN MEDICINE, vol.21, no.3, pp.545-552, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.1038/s41436-018-0140-3
  • Title of Journal : GENETICS IN MEDICINE
  • Page Numbers: pp.545-552
  • Keywords: autozygome, primary microcephaly, dwarfism, CNTRL, TRANSFER-RNA, INTELLECTUAL DISABILITY, RECESSIVE MUTATIONS, TRUNCATING MUTATION, MECHANISMS, FAMILIES, CEP135, GENE, FORM

Abstract

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.