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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Detaylı Bibliyografya
Yayımlandı:Endocr Connect
Asıl Yazarlar: Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Bioscientifica Ltd 2018
Konular:
Research
Online Erişim: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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