Article
Genomic and phenotypic delineation of congenital microcephaly.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019
Shaheen Ranad, Maddirevula Sateesh, Ewida Nour, Alsahli Saud, Abdel-Salam Ghada M H, Zaki Maha S, Tala Saeed Al, Alhashem Amal, Softah Ameen, Al-Owain Mohammed, Alazami Anas M, Abadel Basma, Patel Nisha, Al-Sheddi Tarfa, Alomar Rana, Alobeid Eman, Ibrahim Niema, Hashem Mais, Abdulwahab Firdous, Hamad Muddathir, Tabarki Brahim, Alwadei Ali H, Alhazzani Fahad, Bashiri Fahad A, Kentab Amal, Şahintürk Serdar, Sherr Elliott, Fregeau Brieana, Sogati Samira, Alshahwan Saad Ali M, Alkhalifi Salwa, Alhumaidi Zainab, Temtamy Samia, Aglan Mona, Otaify Ghada, Girisha Katta M, Tulbah Maha, Seidahmed Mohammed Zain, Salih Mustafa A, Abouelhoda Mohamed, Momin Afaque A, Saffar Muna Al, Partlow Jennifer N, Arold Stefan T, Faqeih Eissa, Walsh Christopher, Alkuraya Fowzan S
Abstract excerpt
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. METHODS: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis. RESULTS: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the...
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