Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

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...

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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2017
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5495032/
https://ncbi.nlm.nih.gov/pubmed/28679688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001321
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