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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Endocrinol Metab
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2021
Aiheet:
Clinical Research Articles
Linkit: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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