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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Endocr Connect
Egile Nagusiak: Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Bioscientifica Ltd 2018
Gaiak:
Sarrera elektronikoa: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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