Article
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Cold Spring Harbor molecular case studies - 1 Jul 2017
Johnston Jennifer J, Lee Chanjae, Wentzensen Ingrid M, Parisi Melissa A, Crenshaw Molly M, Sapp Julie C, Gross Jeffrey M, Wallingford John B, Biesecker Leslie G
Abstract excerpt
Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and Sanger-verified...
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