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Article

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 25 May 2016

Honey E M

Abstract excerpt

Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in...

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Identifiers

PMID: 27245527
DOI: 10.7196/SAMJ.2016.v106i6.10994

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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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