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Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA...

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Detalles Bibliográficos
Autores principales: Chu, Chunfang, Li, Lin, Li, Shenghui, Zhou, Qi, Zheng, Ping, Zhang, Yu-Di, Duan, Ai-hong, Lu, Dan, Wu, Yu-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8969342/
https://www.ncbi.nlm.nih.gov/pubmed/35361250
http://dx.doi.org/10.1186/s40246-022-00385-0