Article
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Genome research - 1 Feb 2013
Abu-Safieh Leen, Alrashed May, Anazi Shamsa, Alkuraya Hisham, Khan Arif O, Al-Owain Mohammed, Al-Zahrani Jawahir, Al-Abdi Lama, Hashem Mais, Al-Tarimi Salwa, Sebai Mohammed-Adeeb, Shamia Ahmed, Ray-Zack Mohamed D, Nassan Malik, Al-Hassnan Zuhair N, Rahbeeni Zuhair, Waheeb Saad, Alkharashi Abdullah, Abboud Emad, Al-Hazzaa Selwa A F, Alkuraya Fowzan S
Abstract excerpt
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and...
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