Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia

HDR syndrome is a rare genetic disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness, and renal disease. Here, we report case of a 9-month-old male with history of hydronephrosis and sensorineural deafness who presented with febrile seizures....

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Detalles Bibliográficos
Autores principales: Gandolfi, Anne, Ratnasamy, Kevin, Minutti, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578366/
https://www.ncbi.nlm.nih.gov/pubmed/37908274
http://dx.doi.org/10.1210/jcemcr/luac025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578366/
https://www.ncbi.nlm.nih.gov/pubmed/37908274
http://dx.doi.org/10.1210/jcemcr/luac025

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