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Sustained endocrine profiles of a girl with WAGR syndrome

BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models...

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Pubblicato in:BMC Med Genet
Autori principali: Takada, Yui, Sakai, Yasunari, Matsushita, Yuki, Ohkubo, Kazuhiro, Koga, Yuhki, Akamine, Satoshi, Torio, Michiko, Ishizaki, Yoshito, Sanefuji, Masafumi, Torisu, Hiroyuki, Shaw, Chad A., Kagami, Masayo, Hara, Toshiro, Ohga, Shouichi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5654094/
https://ncbi.nlm.nih.gov/pubmed/29061165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0477-5
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