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1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

Chromosome 1q42.12q42.2 deletions are documented as “disease causing” and show overlapping phenotypes depending on the genes involved in the deletion. In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 region in a 4-year-old boy with hypoplastic corpus callosum, e...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Radha Rama Devi, Akella, Ganapathy, Aparna, Mannan, Ashraf U., Sabharanjak, Shefali, Naushad, Shaik M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528072/
https://ncbi.nlm.nih.gov/pubmed/31191205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000496079
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