Article
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.
The Journal of clinical endocrinology and metabolism - 18 Nov 2024
Martinez-Mayer Julian, Vishnopolska Sebastian, Perticarari Catalina, Iglesias Garcia Lucia, Hackbartt Martina, Martinez Marcela, Zaiat Jonathan, Jacome-Alvarado Andrea, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Forclaz Maria Veronica, Benzrihen Gabriela, D'Amato Silvia, Cirigliano Maria Lujan, Miras Mirta, Paez Nuñez Alejandra, Castro Laura, Mallea-Gil Maria Susana, Ballarino Carolina, Latorre-Villacorta Laura, Casiello Ana Clara, Hernandez Claudia, Figueroa Veronica, Alonso Guillermo, Morin Analia, Guntsche Zelmira, Lee Hane, Lee Eugene, Song Yongjun, Marti Marcelo Adrian, Perez-Millan Maria Ines
Abstract excerpt
CONTEXT: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction, with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported. OBJECTIVE: We aimed to unveil the genetic etiology of CH in a...
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