Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy-Reference-Cited by-同舟云学术

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy

Author:

Goh Elaine Suk-Ying¹,Banwell Brenda²,Stavropoulos Dimitri James³,Shago Mary³,Yoon Grace¹²

Affiliation:

1. Department of Pediatrics, Division of Clinical and Metabolic Genetics; The Hospital for Sick Children, University of Toronto; Toronto Canada

2. Division of Neurology; The Hospital for Sick Children; Toronto Canada

3. Department of Paediatric Laboratory Medicine; Cytogenetics Laboratory; The Hospital for Sick Children; Toronto Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference19 articles.

5. Smith-Magenis syndrome;Elsea;Eur J Hum Genet,2008

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2. Mosaic Williams syndrome: A case report;American Journal of Medical Genetics Part A;2022-10-20