Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria

BACKGROUND: Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers...

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Detalles Bibliográficos
Autores principales: Yu, Sha, Chen, Wen‐xia, Lu, Wei, Chen, Chao, Ni, Yihua, Duan, Bo, Wang, Bin, Wang, Huijun, Xu, Zheng‐min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216807/
https://www.ncbi.nlm.nih.gov/pubmed/32155322
http://dx.doi.org/10.1002/mgg3.1222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216807/
https://www.ncbi.nlm.nih.gov/pubmed/32155322
http://dx.doi.org/10.1002/mgg3.1222

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