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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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
Clinical Research Articles
On-line přístup: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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