Article
Expanding the phenome and variome of skeletal dysplasia.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018
Maddirevula Sateesh, Alsahli Saud, Alhabeeb Lamees, Patel Nisha, Alzahrani Fatema, Shamseldin Hanan E, Anazi Shams, Ewida Nour, Alsaif Hessa S, Mohamed Jawahir Y, Alazami Anas M, Ibrahim Niema, Abdulwahab Firdous, Hashem Mais, Abouelhoda Mohamed, Monies Dorota, Al Tassan Nada, Alshammari Muneera, Alsagheir Afaf, Seidahmed Mohammed Zain, Sogati Samira, Aglan Mona S, Hamad Muddathir H, Salih Mustafa A, Hamed Ahlam A, Alhashmi Nadia, Nabil Amira, Alfadli Fatima, Abdel-Salam Ghada M H, Alkuraya Hisham, Peitee Winnie Ong, Keng W T, Qasem Abdullah, Mushiba Aziza M, Zaki Maha S, Fassad Mahmoud R, Alfadhel Majid, Alexander Saji, Sabr Yasser, Temtamy Samia, Ekbote Alka V, Ismail Samira, Hosny Gamal Ahmed, Otaify Ghada A, Amr Khalda, Al Tala Saeed, Khan Arif O, Rizk Tamer, Alaqeel Aida, Alsiddiky Abdulmonem, Singh Ankur, Kapoor Seema, Alhashem Amal, Faqeih Eissa, Shaheen Ranad, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. METHODS: Detailed phenotyping and next-generation sequencing (panel and exome). RESULTS: Our analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal...
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