Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A

BACKGROUND: Genitourinary and/or brain malformation syndrome (GUBS) is a recently discovered syndrome involving abnormalities of the neurological or urogenital system. PPP1R12A may be the pathological gene causing this syndrome. Currently, to our knowledge, there is only one study related to GUBS in...

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Detalles Bibliográficos
Autores principales: Diao, Yanxia, Sun, Weiwei, Zhang, Zhen, Zhao, Bing, Chen, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568382/
https://www.ncbi.nlm.nih.gov/pubmed/37272772
http://dx.doi.org/10.1002/mgg3.2223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568382/
https://www.ncbi.nlm.nih.gov/pubmed/37272772
http://dx.doi.org/10.1002/mgg3.2223

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