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Keywords: Williams syndrome
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Journal Articles

Williams Syndrome and 15q Duplication: Coincidence versus Association

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aditi Khokhar, Swashti Agarwal, Sheila Perez-Colon
Journal: Molecular Syndromology
Mol Syndromol (2017) 8 (1): 50–54.
https://doi.org/10.1159/000452360
Published Online: 15 November 2016
...Aditi Khokhar; Swashti Agarwal; Sheila Perez-Colon Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint...
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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
... the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene. Deletion 7q11.23 Genomic disorders GTF2I GTF2IRD1 Segmental duplications Williams-Beuren syndrome Williams syndrome 9 01...
View articletitled, A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
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