Article
The morbid genome of ciliopathies: an update.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2020
Shamseldin Hanan E, Shaheen Ranad, Ewida Nour, Bubshait Dalal K, Alkuraya Hisham, Almardawi Elham, Howaidi Ali, Sabr Yasser, Abdalla Ebtesam M, Alfaifi Abdullah Y, Alghamdi Jameel Mohammed, Alsagheir Afaf, Alfares Ahmed, Morsy Heba, Hussein Maged H, Al-Muhaizea Mohammad A, Shagrani Mohammad, Al Sabban Essam, Salih Mustafa A, Meriki Neama, Khan Rubina, Almugbel Maisoon, Qari Alya, Tulba Maha, Mahnashi Mohammed, Alhazmi Khalid, Alsalamah Abrar K, Nowilaty Sawsan R, Alhashem Amal, Hashem Mais, Abdulwahab Firdous, Ibrahim Niema, Alshidi Tarfa, AlObeid Eman, Alenazi Mona M, Alzaidan Hamad, Rahbeeni Zuhair, Al-Owain Mohammed, Sogaty Sameera, Seidahmed Mohammed Zain, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel...
Topics
- Alleles
- Bardet-Biedl Syndrome
- Cilia
- Ciliopathies
- Humans
- Sodium Channels