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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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Detalles Bibliográficos
Autores principales: Kim, Yoon-Myung, Cho, Ja Hyang, Kang, Eungu, Kim, Gu-Hwan, Seo, Eul-Ju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835556/
https://www.ncbi.nlm.nih.gov/pubmed/27104174
http://dx.doi.org/10.6065/apem.2016.21.1.15