Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

Maffucci syndrome is a rare disorder characterized by enchondromatosis and hemangiomata. It can occur due to sporadic, de novo, mosaic pathogenic variants in the gene encoding isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). IDH1 variants are associated with endocrine manifest...

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Detalles Bibliográficos
Autores principales: Ginnard, Olivia Z B, Burrage, Lindsay C, Karaviti, Lefkothea P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089628/
http://dx.doi.org/10.1210/jendso/bvab048.1428

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089628/
http://dx.doi.org/10.1210/jendso/bvab048.1428

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