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Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

Patients with Williams–Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented wi...

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Detalles Bibliográficos
Autores principales: Lumaka, Aimé, Lukoo, Rita, Mubungu, Gerrye, Lumbala, Paul, Mbayabo, Gloire, Mupuala, Aimée, Tshilobo, Prosper Lukusa, Devriendt, Koenraad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771852/
https://www.ncbi.nlm.nih.gov/pubmed/27014455
http://dx.doi.org/10.1002/ccr3.476