Assessment of Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic test for Egyptian patients with Williams-Beuren syndrome

Author:

Amr Khalda S.,El-Bassyouni Hala T.,Hammad Saida A.,Ashaat Engy A.ORCID,Abdel Kader Rania M.A.,El Ruby Mona O.,Sayed Sara M.,Attia Hanan A.

Publisher

Elsevier BV

Subject

Genetics

Reference38 articles.

1. The 7q11.23 microduplication syndrome: a clinical report with review of literature;Abbas;Journal of Pediatric Genetics,2016

2. Atypical Williams syndrome in an infant with complete atrioventricular canal defect;Ahrens-Nicklas;Am. J. Med. Genet. A,2015

3. Intracisternal Gtf2i gene therapy ameliorates deficits in cognition and synaptic plasticity of a mouse model of Williams–Beuren syndrome;Borralleras;Mol. Ther.,2015

4. Health care supervision for children with Williams syndrome;Committee on Genetics, American Academy of Pediatrics;Pediatrics,2001

5. 7q11.23 microduplication: a recognizable phenotype;Dixit;Clin. Genet.,2013

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