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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

CONTEXT: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasionally transient partial GH deficiency. Si...

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Detalles Bibliográficos
Autores principales:	Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., Persani, L., Wit, J. M., Biermasz, N. R., Pereira, A. M., Oostdijk, W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880178/ https://www.ncbi.nlm.nih.gov/pubmed/26840047 http://dx.doi.org/10.1210/jc.2015-3880

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