Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as...

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Detalles Bibliográficos
Autores principales: Abe, Yuki, Yamamoto, Toshiyuki, Izumita, Yukie, Tsukano, Shinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253428/
https://www.ncbi.nlm.nih.gov/pubmed/32528714
http://dx.doi.org/10.1038/s41439-020-0104-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253428/
https://www.ncbi.nlm.nih.gov/pubmed/32528714
http://dx.doi.org/10.1038/s41439-020-0104-4

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