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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Enregistré dans:
Détails bibliographiques
Publié dans:J Clin Endocrinol Metab
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2021
Sujets:
Clinical Research Articles
Accès en ligne: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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