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Article

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.

Congenital anomalies - 1 Aug 2015

Okamoto Toshio, Nagaya Ken, Kawata Yumi, Asai Hiroko, Tsuchida Etsushi, Nohara Fumikatsu, Okajima Kazuki, Azuma Hiroshi

Abstract excerpt

Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder....

Topics

Cytoplasmic Dyneins
Heterozygote
Humans
Infant, Newborn
Male
Mutation
Phenotype
Short Rib-Polydactyly Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25410398
DOI: 10.1111/cga.12098

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-25410398-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.PMID 25410398Read ↗

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.Semantic proximity Read ↗

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Novel Compound Heterozygous Variants of DYNC2H1 Causing The Short Rib-Polydactyly Syndrome, Type III With Situs Inversus Totalis in a FetusSemantic proximity Read ↗

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