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Clinical and genetic characteristics of two cases with Williams-Beuren syndrome

Herein, we describe 2 cases of Williams-Beuren syndrome (WBS). In both cases, the patients exhibited mental retardation, characteristic facial features, and indirect inguinal hernia. Case 1, a girl aged 2 years and 5 months old, presented with hypercalcemia, and in case 2, a boy aged 4 years and 11...

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Detalles Bibliográficos
Autores principales: Wang, Liu-Xu, Leng, Jie, Li, Zhong-Hui, Yan, Li, Gou, Peng, Tang, Fang, Su, Na, Gong, Chun-Zhu, Cheng, Xin-Ran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261582/
https://www.ncbi.nlm.nih.gov/pubmed/34295790
http://dx.doi.org/10.21037/tp-21-161