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Article

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

American journal of medical genetics. Part A - 1 Jun 2013

Tüysüz Beyhan, Yılmaz Saliha, Gül Ece, Kolb Luis, Bilguvar Kaya, Evliyaoğlu Olcay, Günel Murat

Abstract excerpt

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type, is a skeletal dysplasia characterized by platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature, and short and bowed legs, and is caused by mutations in PAPSS2. In a single Turkish patient also hyperandrogenism was reported. We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for...

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Identifiers

PMID: 23633440
DOI: 10.1002/ajmg.a.35906

Genes

PAPSS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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