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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Hlavní autoři: Joustra, Sjoerd D., van Trotsenburg, A. S. Paul, Sun, Yu, Losekoot, Monique, Bernard, Daniel J., Biermasz, Nienke R., Oostdijk, Wilma, Wit, Jan M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Landes Bioscience 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3915563/
https://ncbi.nlm.nih.gov/pubmed/25002994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.24883
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