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Article

X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.

American journal of medical genetics. Part A - 15 Feb 2004

Bar-Yosef Udy, Ohana Eric, Hershkovitz Eli, Perlmuter Sarit, Ofir Rivka, Birk Ohad S

Abstract excerpt

X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. We found a single-nucleotide deletion in position 613 of the SEDL gene in two brothers of Jewish-Ashkenazi ancestry afflicted with the disease. This...

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Identifiers

PMID: 14755465
DOI: 10.1002/ajmg.a.20435

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

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