PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.

INTRODUCTION: XYdisorders of sex development (DSD) result from variants in many different human genes but frequently have no detectable molecular cause. In approximately 25% of cases of XY DSD, the index case may have associated malformations. Genetic disorders of endoplasmic reticulum (ER) function...

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Detalles Bibliográficos
Autores principales: Greenfield, Andy, Herzyk, Pawel, Lucas-Herald, Angela K, McGowan, Ruth, SGP, Scottish Genomes Partnership, Touyz, Rhian M, Williams, Nicola, Tobias, Edward S, Sagar, Danielle, Montezano, Augusto C, Rios, Francisco J, de Lucca Camargo, Livia, Hamilton, Graham, Gazdagh, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627430/
http://dx.doi.org/10.1210/jendso/bvac150.1293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627430/
http://dx.doi.org/10.1210/jendso/bvac150.1293

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