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Article

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

American journal of medical genetics. Part A - 1 Oct 2015

Lee Hane, Nevarez Lisette, Lachman Ralph S, Wilcox William R, Krakow Deborah, Cohn Daniel H

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25997753
DOI: 10.1002/ajmg.a.37173
PMCID: PMC5036935

Genes

INPPL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 8 closest

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).PMID 25997753Read ↗

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.Semantic proximity Read ↗

INPPL1 gene mutations in opsismodysplasia.Semantic proximity Read ↗

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

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.Semantic proximity Read ↗

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

Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.Semantic proximity Read ↗

Duplicated zebrafish ( <i>Danio rerio</i> ) inositol phosphatases <i>inpp5ka</i> and <i>inpp5kb</i> diverged in expression pattern and functionSemantic proximity Read ↗

Early childhood presentation of Czech dysplasia.Semantic proximity Read ↗

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