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Article

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

American journal of medical genetics. Part A - 1 Nov 2012

Bacino Carlos A, Dhar Shweta U, Brunetti-Pierri Nicola, Lee Brendan, Bonnen Penelope E

Abstract excerpt

Sensenbrenner syndrome and unclassified short rib-polydactyly conditions are ciliopathies with overlapping phenotypes and genetic heterogeneity. Mutations in WDR35 were identified recently in a sub-group of patients with Sensenbrenner syndrome and in a single family that presented with an unclassified form of short-rib polydactyly (SRP) syndrome. We report on siblings with an unusual combination of phenotypes:...

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PMID: 22987818
DOI: 10.1002/ajmg.a.35608
PMCID: PMC4000731

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WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.PMID 22987818Read ↗

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