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Article

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

American journal of medical genetics. Part A - 15 Sept 2008

van Roij Mirjam H H, Mizumoto Shuji, Yamada Shuhei, Morgan Tim, Tan-Sindhunata M B, Meijers-Heijboer H, Verbeke J I L M, Markie David, Sugahara Kazuyuki, Robertson Stephen P

Abstract excerpt

Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), se...

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Source

Identifiers

PMID: 18698629
DOI: 10.1002/ajmg.a.32482

Genes

CHST3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18698629-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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