Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders

PURPOSE: Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the pro...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Olivieri, Federico, Miranda, Lucas, Marino, Roxana, Ramírez, Pablo, Pérez Garrido, Natalia, Patiño Mejia, Helen, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Martí, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez-Millán, Maria Ines
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8208670/
https://ncbi.nlm.nih.gov/pubmed/33729509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgab177
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