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Article

Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 May 2010

Morris Colleen A, Pani Ariel M, Mervis Carolyn B, Rios Cecilia M, Kistler Doris J, Gregg Ronald G

Abstract excerpt

Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We...

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Source

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Identifiers

PMID: 20425789
DOI: 10.1002/ajmg.c.30265
PMCID: PMC2911626

Genes

SERPINA1

Provenance

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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