Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. Our aim...

Descripción completa

Detalles Bibliográficos
Autores principales: Correa Brito, Lourdes, Grinspon, Romina P., Lopez Dacal, Jimena, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Ropelato, María Gabriela, Rey, Rodolfo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381246/
https://www.ncbi.nlm.nih.gov/pubmed/37511771
http://dx.doi.org/10.3390/jpm13071158

Ejemplares similares

Ejemplares similares