IGSF1 deficiency syndrome: A newly uncovered endocrinopathy

A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this end...

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Detalles Bibliográficos
Autores principales: Joustra, Sjoerd D., van Trotsenburg, A. S. Paul, Sun, Yu, Losekoot, Monique, Bernard, Daniel J., Biermasz, Nienke R., Oostdijk, Wilma, Wit, Jan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Landes Bioscience 2013
Materias:
Addendum
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/
https://www.ncbi.nlm.nih.gov/pubmed/25002994
http://dx.doi.org/10.4161/rdis.24883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/
https://www.ncbi.nlm.nih.gov/pubmed/25002994
http://dx.doi.org/10.4161/rdis.24883

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