MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G).

Activating germline mutations of the TSH receptor are responsible for a rare form of non-autoimmune hyperthyroidism transmitted as an autosomal dominant trait. We describe the case of a patient and her mother presenting with neonatal non-autoimmune hyperthyroidism associated with a heterozygous A619...

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Detalles Bibliográficos
Autores principales: Taha, Doris, Adhikari, Amita, Thirunagari, Rajeev, Senguttuvan, Rajan, Flore, Leigh Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551036/
http://dx.doi.org/10.1210/js.2019-MON-264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551036/
http://dx.doi.org/10.1210/js.2019-MON-264

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