Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

BACKGROUND: Cryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to control testicular descent in mice, their link to h...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Ayers, Katie, Kumar, Rakesh, Robevska, Gorjana, Bruell, Shoni, Bell, Katrina, Malik, Muneer A, Bathgate, Ross A, Sinclair, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Developmental Defects
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6860408/
https://ncbi.nlm.nih.gov/pubmed/31167797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106203
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