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SAT-287 Hypogonadotropic Hypogonadism in RPL10 Mutation-Associated Syndromic Intellectual Disability

Background: A multitude of inactivating genetic mutations have been implicated in Idiopathic Hypogonadotropic Hypogonadism (IHH), either in Kallmann syndrome or in norm-osmic IHH. Over the last decade, a limited number of studies described variations in ribosomal protein L10 (RPL10) gene as a cause...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: Broussard, Julia, Ugrasbul-Eksinar, Figen
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Endocrine Society 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552257/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-287
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