Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal ch...

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Detalles Bibliográficos
Autores principales: Stuckey, Bronwyn G. A., Jones, Timothy W., Ward, Bryan K., Wilson, Scott G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298326/
https://www.ncbi.nlm.nih.gov/pubmed/37372384
http://dx.doi.org/10.3390/genes14061204

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