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Article

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2008

Moskowitz Samuel M, Chmiel James F, Sternen Darci L, Cheng Edith, Gibson Ronald L, Marshall Susan G, Cutting Garry R

Abstract excerpt

Cystic fibrosis transmembrane conductance regulator-related disorders encompass a disease spectrum from focal male reproductive tract involvement in congenital absence of the vas deferens to multiorgan involvement in classic cystic fibrosis. The reproductive, gastrointestinal, and exocrine manifestations of cystic fibrosis transmembrane conductance regulator deficiency are correlated with CFTR genotype, whereas...

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Source

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Identifiers

PMID: 19092437
DOI: 10.1097/GIM.0b013e31818e55a2
PMCID: PMC2810953

Genes

CFTR

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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