Genomic and phenotypic delineation of congenital microcephaly


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

GENETICS IN MEDICINE, cilt.21, sa.3, ss.545-552, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0140-3
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.545-552
  • Anahtar Kelimeler: autozygome, primary microcephaly, dwarfism, CNTRL, TRANSFER-RNA, INTELLECTUAL DISABILITY, RECESSIVE MUTATIONS, TRUNCATING MUTATION, MECHANISMS, FAMILIES, CEP135, GENE, FORM
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.