A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

Detalles Bibliográficos
Autores principales: Tajima, Toshihiro, Oguma, Makiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2022
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981044/
https://www.ncbi.nlm.nih.gov/pubmed/35431442
http://dx.doi.org/10.1297/cpe.2021-0071
Descripción
Sumario:

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