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Article

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.

Vascular medicine (London, England) - 1 Dec 2012

Poloskey Stacey L, Kim Esther Sh, Sanghani Ruchi, Al-Quthami Adeeb H, Arscott Patricia, Moran Rocio, Rigelsky Christina M, Gornik Heather L

Abstract excerpt

Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified. Clinical characteristics were collected and genetic test results reviewed for abnormalities in the following genes:...

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Identifiers

PMID: 23064905
DOI: 10.1177/1358863X12459650

Genes

SMAD3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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