Genomic and phenotypic delineation of congenital microcephaly

Shaheen, Ranad; Alkuraya, Fowzan; Maddirevula, Sateesh; Ewida, Nour; Alsahli, Saud; Abdel-Salam, Ghada; Zaki, Maha; Al Tala, Saeed; Alhashem, Amal; Softah, Ameen; Al-Owain, Mohammed; Alazami, Anas; Abadel, Basma; Patel, Nisha; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Hamad, Muddathir; Tabarki, Brahim; Alwadei, Ali; Alhazzani, Fahad; Bashiri, Fahad; Kentab, Amal; ŞAHİNTÜRK, SERDAR; Sherr, Elliott; Fregeau, Brieana; Sogati, Samira; Alshahwan, Saad; Alkhalifi, Salwa; Alhumaidi, Zainab; Temtamy, Samia; Aglan, Mona; Otaify, Ghada; Girisha, Katta; Tulbah, Maha; Seidahmed, Mohammed; Salih, Mustafa; Abouelhoda, Mohamed; Momin, Afaque; Al Saffar, Muna; Partlow, Jennifer; Arold, Stefan; Faqeih, Eissa; Walsh, Christopher

doi:10.1038/s41436-018-0140-3

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, Scopus)

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.