Endocrine dysfunctions in children with Williams-Beuren syndrome

Endocrine dysfunctions in children with Williams-Beuren syndrome

PurposeWilliams-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 perfo...

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Bibliographic Details
Main Authors: Yoon-Myung Kim, Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2016-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Hypercalcemia
Precocious puberty
Short stature
Hypothyroidism
Williams-Beuren syndrome
Online Access:http://e-apem.org/upload/pdf/apem-21-15.pdf

Internet

http://e-apem.org/upload/pdf/apem-21-15.pdf

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