Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity

An SLC30A9-associated cerebrorenal syndrome was first reported in consanguineous Bedouin kindred by Perez et al. in 2017. Although the function of the gene has not yet been fully elucidated, it may be implicated in Wnt signaling and nuclear regulation, as well as in cell and mitochondrial zinc regul...

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Detalles Bibliográficos
Autores principales: Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958918/
https://www.ncbi.nlm.nih.gov/pubmed/34716203
http://dx.doi.org/10.1101/mcs.a006137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958918/
https://www.ncbi.nlm.nih.gov/pubmed/34716203
http://dx.doi.org/10.1101/mcs.a006137

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