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Keywords: Williams-Beuren syndrome
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Journal Articles

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Cedrik Tekendo-Ngongang, Sophie Dahoun, Seraphin Nguefack, Stefania Gimelli, Frédérique Sloan-Béna, Ambroise Wonkam
Journal: Molecular Syndromology
Mol Syndromol (2014) 5 (6): 287–292.
https://doi.org/10.1159/000369421
Published Online: 29 November 2014
...Cedrik Tekendo-Ngongang; Sophie Dahoun; Seraphin Nguefack; Stefania Gimelli; Frédérique Sloan-Béna; Ambroise Wonkam Williams-Beuren syndrome (WBS) is a rare neurodevelopmental condition caused by a recurrent chromosomal microdeletion involving about 28 contiguous genes at 7q11.23. Most patients...
View articletitled, Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon
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Journal Articles

A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
L.M. Delgado, M. Gutierrez, B. Augello, C. Fusco, L. Micale, G. Merla, E.A. Pastene
Journal: Molecular Syndromology
Mol Syndromol (2013) 4 (3): 143–147.
https://doi.org/10.1159/000347167
Published Online: 28 February 2013
...L.M. Delgado; M. Gutierrez; B. Augello; C. Fusco; L. Micale; G. Merla; E.A. Pastene Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features...
View articletitled, A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
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