Open AccessMON-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
Author(s) -
Sebastián Vishnopolska,
Amanda H. Mortensen,
Débora Braslavsky,
Ana Keselman,
Ignacio Bergadá,
Roxana Marino,
Pablo Ramírez,
Natalia Pérez Garrido,
Marta Ciaccio,
María Di Palma,
Alicia Belgorosky,
Marcelo A. Martí,
Jacob O. Kitzman,
Sally A. Camper,
Maria Perez Millan
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-mon-472
Subject(s) - hypopituitarism , biology , candidate gene , gli2 , ighd , genetics , exome sequencing , gene , exon , dna sequencing , growth hormone deficiency , phenotype , endocrinology , growth hormone , sonic hedgehog , hormone