RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.

INTRODUCTION: Mutations in MC2R causing familial glucocorticoid deficiency (FGD), a rare form of primary, isolated adrenal insufficiency, were first published in 1993, discovered by candidate gene sequencing (CGS). Through advances in genetic techniques from homozygosity mapping to whole exome seque...

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Detalles Bibliográficos
Autores principales: Chan, Li, Smith, Chris, Read, Jordan, Hall, Charlotte, Maharaj, Avinaash, Ramirez, Lucia Marroquin, Qamar, Younus, Hughes, Claire, Clark, Adrian, Musa, Salwa, Prasad, Rathi, Metherell, Lou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624832/
http://dx.doi.org/10.1210/jendso/bvac150.286

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