Smith, Christopher et al. American Journal of Medical Genetics Part A. 2015 Dec
Christopher Smith and colleagues report on a patient from a consanguineous family presenting with phenotype resembled a skeletal ciliopathy. Due to the presence of parental consanguinity, they analysed the candidate gene WDR35 by sequencing of all coding exons and focused their analyses on homozygous recessive mutations. They identified a novel homozygous nonsynonymous variant in WDR35, p.Trp1153Cys.
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AMMAR HUSAMI
Cincinnati Children's Hospital Medical Center