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Article

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 2000

Grosch Melanie, Grüner Barbara, Spranger Stephanie, Stütz Adrian M, Rausch Tobias, Korbel Jan O, Seelow Dominik, Nürnberg Peter, Sticht Heinrich, Lausch Ekkehart, Zabel Bernhard, Winterpacht Andreas, Tagariello Andreas

Abstract excerpt

Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) is an autosomal dominant skeletal dysplasia which is characterized by midface hypoplasia, short stature, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers. Recently, heterozygous missense mutations in KIF22, a gene which encodes a member of the kinesin-like protein family, have been identified in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23665482
DOI: 10.1016/j.matbio.2013.05.001

Genes

NIN
KIF22
POLE2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.PMID 23665482Read ↗

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.Semantic proximity Read ↗

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