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Article

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

American journal of human genetics - 9 Dec 2011

Min Byung-Joo, Kim Namshin, Chung Taesu, Kim Ok-Hwa, Nishimura Gen, Chung Chin Youb, Song Hae Ryong, Kim Hyun Woo, Lee Hye Ran, Kim Jiwoong, Kang Tae-Hoon, Seo Myung-Eui, Yang San-Deok, Kim Do-Hwan, Lee Seung-Bok, Kim Jong-Il, Seo Jeong-Sun, Choi Ji-Yeob, Kang Daehee, Kim Dongsup, Park Woong-Yang, Cho Tae-Joon

Abstract excerpt

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been discovered. We captured and sequenced the exomes of eight affected individuals in six unrelated kindreds (three...

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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: 22152677
DOI: 10.1016/j.ajhg.2011.10.015
PMCID: PMC3234366

Genes

KIF22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.PMID 22152677Read ↗

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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