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Article

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Human mutation - 1 Jan 2018

Zhang Wenjuan, Taylor S Paige, Ennis Hayley A, Forlenza Kimberly N, Duran Ivan, Li Bing, Sanchez Jorge A Ortiz, Nevarez Lisette, Nickerson Deborah A, Bamshad Michael, Lachman Ralph S, Krakow Deborah, Cohn Daniel H

Abstract excerpt

Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe...

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Identifiers

PMID: 29068549
DOI: 10.1002/humu.23362
PMCID: PMC6198324

Genes

EVC
FUZ
LBR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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