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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...
Autores principales: | Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300862/ https://www.ncbi.nlm.nih.gov/pubmed/30550377 http://dx.doi.org/10.1530/EC-18-0486 |
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