HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes

CONTEXT: Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known to cause HH that segregate with the trait of fami...

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Pubblicato in:J Clin Endocrinol Metab
Autori principali: Howard, Sasha R, Oleari, Roberto, Poliandri, Ariel, Chantzara, Vasiliki, Fantin, Alessandro, Ruiz-Babot, Gerard, Metherell, Louise A, Cabrera, Claudia P, Barnes, Michael R, Wehkalampi, Karoliina, Guasti, Leonardo, Ruhrberg, Christiana, Cariboni, Anna, Dunkel, Leo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2018
Soggetti:
Clinical Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6126894/
https://ncbi.nlm.nih.gov/pubmed/29931354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-00646
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