A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis

Adenosine deaminase t-RNA-specific 3 (ADAT3) gene, present on chromosome 19, encodes for an enzyme responsible for deamination of adenosine to inosine. Individuals with ADAT3 mutation display microcephaly, dysmorphic features, neurological, behavioural, and endocrinal pathologies. ADAT3 mutation is...

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Detalles Bibliográficos
Autores principales: AlDhalaan, Waheeb, Syed, Faaezuddin, Javaid, Haroon A, AlSagheir, Afaf, Almustanyir, Sami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702390/
https://www.ncbi.nlm.nih.gov/pubmed/34963848
http://dx.doi.org/10.7759/cureus.19833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702390/
https://www.ncbi.nlm.nih.gov/pubmed/34963848
http://dx.doi.org/10.7759/cureus.19833

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