State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by chromosomal rearrangements affecting the 22q13.3 region or by SHANK3 pathogenic variants. The scientific literature suggests that up to 40% of individuals with PMS have kidney disorders, yet little research has been conducted...

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Detalles Bibliográficos
Autores principales: McCoy, Megan D., Sarasua, Sara M., DeLuca, Jane M., Davis, Stephanie, Phelan, Katy, Rogers, Roger Curtis, Boccuto, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223119/
https://www.ncbi.nlm.nih.gov/pubmed/35741804
http://dx.doi.org/10.3390/genes13061042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223119/
https://www.ncbi.nlm.nih.gov/pubmed/35741804
http://dx.doi.org/10.3390/genes13061042

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