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Article

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

American journal of human genetics - 2 Jun 2016

Cho Sung Yoon, Bae Jun-Seok, Kim Nayoung K D, Forzano Francesca, Girisha Katta Mohan, Baldo Chiara, Faravelli Francesca, Cho Tae-Joon, Kim Dongsup, Lee Kyoung Yeul, Ikegawa Shiro, Shim Jong Sup, Ko Ah-Ra, Miyake Noriko, Nishimura Gen, Superti-Furga Andrea, Spranger Jürgen, Kim Ok-Hwa, Park Woong-Yang, Jin Dong-Kyu

Abstract excerpt

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN...

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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: 27236923
DOI: 10.1016/j.ajhg.2016.04.004
PMCID: PMC4908150

Genes

BGN

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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