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Article

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

American journal of human genetics - 10 Jan 2013

Huber Céline, Faqeih Eissa Ali, Bartholdi Deborah, Bole-Feysot Christine, Borochowitz Zvi, Cavalcanti Denise P, Frigo Amandine, Nitschke Patrick, Roume Joelle, Santos Heloísa G, Shalev Stavit A, Superti-Furga Andrea, Delezoide Anne-Lise, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie

Abstract excerpt

Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. In order to identify mutations causing OPS, a total of 16 cases (7 terminated pregnancies and 9 postnatal cases) from 10...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23273569
DOI: 10.1016/j.ajhg.2012.11.015
PMCID: PMC3542463

Genes

INPPL1

Provenance

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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Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.PMID 23273569Read ↗

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.Semantic proximity Read ↗

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Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.Semantic proximity Read ↗

INPPL1 gene mutations in opsismodysplasia.Semantic proximity Read ↗

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Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.Semantic proximity Read ↗

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