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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.1038/s41436-018-0140-3
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.545-552
  • Keywords: autozygome, primary microcephaly, dwarfism, CNTRL, TRANSFER-RNA, INTELLECTUAL DISABILITY, RECESSIVE MUTATIONS, TRUNCATING MUTATION, MECHANISMS, FAMILIES, CEP135, GENE, FORM
  • Bursa Uludag University Affiliated: Yes

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.