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Congenital bilateral aplasia of the vas deferens

Disease ID:1273
Name:Congenital bilateral aplasia of the vas deferens
Associated with:1 target
Database Links
OMIM: 300985

Targets

ADGRG2
References:  1-3

Ligands

No ligand related data available for Congenital bilateral aplasia of the vas deferens

References

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1. Pagin A, Bergougnoux A, Girodon E, Reboul MP, Willoquaux C, Kesteloot M, Raynal C, Bienvenu T, Humbert M, Lalau G et al.. (2020) Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens. Andrology, 8 (3): 618-624. [PMID:31845523]

2. Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saïdi M et al.. (2016) Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. Am. J. Hum. Genet., 99 (2): 437-42. [PMID:27476656]

3. Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, Liu C, Cheng H, Zhu F, Tian S et al.. (2020) A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. J. Assist. Reprod. Genet., 37 (6): 1421-1429. [PMID:32314195]