Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was...

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Dettagli Bibliografici
Pubblicato in:Endocr Connect
Autori principali: Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Natura: Artigo
Lingua:Inglês
Pubblicazione: Bioscientifica Ltd 2018
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6300862/
https://ncbi.nlm.nih.gov/pubmed/30550377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-18-0486
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