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.
Smith, Christopher et al. American Journal of Medical Genetics Part A.
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Cincinnati Children's Hospital Medical Center