Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in the HIP1 and YWHAG genes. We refer to this as a distal 7q1...

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Bibliographic Details
Published in:Mol Syndromol
Main Authors: Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Parraguez, María M.
Format: Artigo
Language:Inglês
Published: S. Karger AG 2016
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5109990/
https://ncbi.nlm.nih.gov/pubmed/27867344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448698
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