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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...

Topics

Ciliopathies
Cytoplasmic Dyneins
Genetic Association Studies
Genetic Markers
Genetic Variation
Genotype
Humans
Intercellular Signaling Peptides and Proteins
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proteins

Radiography

Skeleton

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

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

Genes

EVC
FUZ
LBR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-29068549-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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