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Article

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Journal of human genetics - 1 Jun 2013

Iida Aritoshi, Okamoto Nobuhiko, Miyake Noriko, Nishimura Gen, Minami Satoshi, Sugimoto Takuya, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Shiina Masaaki, Ogata Kazuhiro, Watanabe Shigehiko, Ohashi Hirofumi, Matsumoto Naomichi, Ikegawa Shiro

Abstract excerpt

Opsismodysplasia is an autosomal recessive skeletal disorder characterized by facial dysmorphism, micromelia, platyspondyly and retarded bone maturation. Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. We performed an exome sequencing in two unrelated...

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Source

Identifiers

PMID: 23552673
DOI: 10.1038/jhg.2013.25

Genes

INPPL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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