Williams-Beuren Region Duplication Syndrome

Williams-Beuren Region Duplication Syndrome(来自ICD-11)

别称:

7q11.23 Microduplication Syndrome

7q11.23 Duplication Syndrome

Chromosome 7q11.23 Duplication Syndrome

Trisomy 7q11.23

Dup(7)(q11.23)

Somerville-Van Der Aa Syndrome

Wbs Duplication Syndrome

William-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Williams-Beuren Region Duplication Syndrome, also known as 7q11.23 microduplication syndrome, is related to supravalvular aortic stenosis and williams-beuren syndrome. An important gene associated with Williams-Beuren Region Duplication Syndrome is DUP7Q11.23 (Chromosome 7q11.23 Duplication Syndrome), and among its related pathways/superpathways is 7q11.23 copy number variation syndrome. Affiliated tissues include heart and brain, and related phenotypes are delayed speech and language development and macrocephaly

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