Open AccessHypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia
Author(s) -
Anne Gandolfi,
Kevin Ratnasamy,
Carla Minutti
Publication year - 2022
Publication title -
jcem case reports
Language(s) - English
Resource type - Journals
ISSN - 2755-1520
DOI - 10.1210/jcemcr/luac025
Subject(s) - hypoparathyroidism , medicine , nonsense mutation , sensorineural hearing loss , etiology , parathyroid hormone , gata3 , endocrinology , hearing loss , pediatrics , gastroenterology , audiology , mutation , calcium , gene , biology , biochemistry , missense mutation , transcription factor
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom