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Article

De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.

American journal of medical genetics - 1 Jan 1992

Karnes P S, Shamban A T, Olsen D R, Fazio M J, Falk R E

Abstract excerpt

Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the...

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PMID: 1308362
DOI: 10.1002/ajmg.1320420108

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

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