Endocrine dysfunctions in children with Williams-Beuren syndrome

PURPOSE: Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was per...

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Pubblicato in:Ann Pediatr Endocrinol Metab
Autori principali: Kim, Yoon-Myung, Cho, Ja Hyang, Kang, Eungu, Kim, Gu-Hwan, Seo, Eul-Ju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society of Pediatric Endocrinology 2016
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4835556/
https://ncbi.nlm.nih.gov/pubmed/27104174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2016.21.1.15
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