Article
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2016
Patel Nisha, Aldahmesh Mohammed A, Alkuraya Hisham, Anazi Shamsa, Alsharif Hadeel, Khan Arif O, Sunker Asma, Al-Mohsen Saleh, Abboud Emad B, Nowilaty Sawsan R, Alowain Mohammed, Al-Zaidan Hamad, Al-Saud Bandar, Alasmari Ali, Abdel-Salam Ghada M H, Abouelhoda Mohamed, Abdulwahab Firdous M, Ibrahim Niema, Naim Ewa, Al-Younes Banan, E AlMostafa Abeer, AlIssa Abdulelah, Hashem Mais, Buzovetsky Olga, Xiong Yong, Monies Dorota, Altassan Nada, Shaheen Ranad, Al-Hazzaa Selwa A F, Alkuraya Fowzan S
Abstract excerpt
PURPOSE: Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large cohort of RD patients. METHODS: We have developed a next-generation sequencing assay that allows known RD genes to be sequenced simultaneously. We also performed mapping studies and exome sequencing on familial...
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