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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Bibliographic Details
Published in:Endocr Connect
Main Authors: Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Format: Artigo
Language:Inglês
Published: Bioscientifica Ltd 2018
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Research
Online Access: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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