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Article

Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Arrington Cammon B, Nightengale Daniel, Lowichik Amy, Rosenthal Eric T, Christian-Ritter Karlyle, Viskochil David H

Abstract excerpt

Nonsyndromic supravalvar aortic stenosis (SVAS) is an obstructive vascular disorder often inherited in an autosomal dominant manner. With pulmonary artery involvement, stenotic lesions are nearly always peripheral or downstream of the pulmonic valve. In rare cases when the supravalvar pulmonic region is affected, the stenoses usually improve over time and rarely affect prognosis. We evaluated a unique family in...

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Share to Aortic Valve Stenosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Smooth, Vascular

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 16944981
DOI: 10.2350/06-01-0014.1

Genes

ELN

Provenance

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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