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Article

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

Human reproduction (Oxford, England) - 1 Jul 2000

Casals T, Bassas L, Egozcue S, Ramos M D, Giménez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X

Abstract excerpt

Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. Patients with unilateral absence of the vas deferens (CUAVD) and patients with CAVD in association with renal agenesis appear to have a different aetiology to th...

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Source

Identifiers

PMID: 10875853
DOI: 10.1093/humrep/15.7.1476

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10875853-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.PMID 10875853Read ↗

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