Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.

Julian Martinez-MayerSebastian VishnopolskaCatalina PerticarariLucia Iglesias GarciaMartina HackbarttMarcela MartinezJonathan ZaiatAndrea Jacome-AlvaradoDebora BraslavskyAna KeselmanIgnacio BergadáRoxana MarinoPablo RamírezNatalia Pérez GarridoMarta CiaccioMaria Isabel Di PalmaAlicia BelgoroskyMaria Veronica ForclazGabriela BenzrihenSilvia D'AmatoMaria Lujan CiriglianoMirta MirasAlejandra Paez NuñezLaura CastroMaria Susana Mallea-GilCarolina BallarinoLaura Latorre-VillacortaAna Clara CasielloClaudia HernandezVeronica FigueroaGuillermo AlonsoAnalia MorinZelmira GuntscheHane LeeEugene LeeYongjun SongMarcelo Adrian MartiMaria Ines Perez-Millan

Published in: The Journal of clinical endocrinology and metabolism (2024)

Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.

Keyphrases

copy number
late onset
single cell
genome wide
amyotrophic lateral sclerosis
gene expression