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Article

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

Human molecular genetics - 15 Sept 2016

Zhang Wenjuan, Taylor S Paige, Nevarez Lisette, Lachman Ralph S, Nickerson Deborah A, Bamshad Michael, Krakow Deborah, Cohn Daniel H

Abstract excerpt

The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shortened and bowed appendicular bones, trident shaped acetabula and polydactyly. In a case of SRPS we...

Topics

Carrier Proteins
Cilia
Ciliopathies
Cytoskeletal Proteins
Flagella
Humans
Intracellular Signaling Peptides and Proteins
Multiprotein Complexes
Muscle Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Short Rib-Polydactyly Syndrome

Skeleton

Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27466190
DOI: 10.1093/hmg/ddw241
PMCID: PMC5291235

Genes

IFT52
IFT74
IFT81
IFT88

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-27466190-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.PMID 27466190Read ↗

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