Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations

In recent years, variants in immunoglobulin superfamily member 1 (IGSF1) have been associated with congenital hypopituitarism. Initially, IGSF1 variants were only reported in patients with central hypothyroidism (CeH) and macroorchidism. Later on, IGSF1 variants were also reported in patients with a...

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Detalles Bibliográficos
Autores principales: Elizabeth, Melitza S. M., Hokken-Koelega, Anita, Visser, Jenny A., Joustra, Sjoerd D., de Graaff, Laura C. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024824/
https://www.ncbi.nlm.nih.gov/pubmed/35456429
http://dx.doi.org/10.3390/genes13040623

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024824/
https://www.ncbi.nlm.nih.gov/pubmed/35456429
http://dx.doi.org/10.3390/genes13040623

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