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Article

Novel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Oct 2025

Sudhakar Digumarthi V S, Khan Shagufta A, Shah Rupin, Kulkarni Vijay, Dighe Vikas, Modi Deepak, Gajbhiye Rahul K

Abstract excerpt

The genetic etiology is unknown for 30-40% of men with congenital bilateral absence of the vas deferens (CBAVD) and 70% of those with congenital unilateral absence of the vas deferens (CUAVD). The study aimed to investigate the genetic etiology of CBAVD/CUAVD, both with and without renal anomalies, in individuals who are negative for CFTR pathogenic variants. We included 19 cases of congenital absence of vas...

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Source

Identifiers

PMID: 40921938
DOI: 10.1007/s43032-025-01964-x

Genes

CFTR
ADGRG2
AR
FREM1
FSHR
SLC26A4
TBX6
WNT2B

Variants

Provenance

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