MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel Sequencing

Congenital hypopituitarism occurs in 1/3,000 - 1/10,000 live births and is highly variable phenotypically. The condition is life-long and life-threatening if untreated. Diagnosis remains a challenge, particularly in the neonatal period. There is a need for better diagnosis that would lead to improve...

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Detalles Bibliográficos
Autores principales: Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Neuroendocrinology and Pituitary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550668/
http://dx.doi.org/10.1210/js.2019-MON-472

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