Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma

Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most c...

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Detalles Bibliográficos
Autores principales: Pálla, Sára, Tőke, Judit, Bozsik, Anikó, Butz, Henriett, Papp, János, Likó, István, Kuroli, Enikő, Bánvölgyi, András, Hamar, Mátyás, Bertherat, Jerome, Medvecz, Márta, Patócs, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480295/
https://www.ncbi.nlm.nih.gov/pubmed/37670105
http://dx.doi.org/10.1038/s41598-023-41878-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480295/
https://www.ncbi.nlm.nih.gov/pubmed/37670105
http://dx.doi.org/10.1038/s41598-023-41878-9

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