Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiqu...

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Detalles Bibliográficos
Autores principales: Kizhakkedath, Praseetha, AlDhaheri, Watfa, Baydoun, Ibrahim, Tabouni, Mohammed, John, Anne, Almansoori, Taleb M., Al-Turki, Saeed, Al-Jasmi, Fatma, Alblooshi, Hiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414535/
https://www.ncbi.nlm.nih.gov/pubmed/37576556
http://dx.doi.org/10.3389/fgene.2023.1219514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414535/
https://www.ncbi.nlm.nih.gov/pubmed/37576556
http://dx.doi.org/10.3389/fgene.2023.1219514

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