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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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Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Radha Rama Devi, Akella, Ganapathy, Aparna, Mannan, Ashraf U., Sabharanjak, Shefali, Naushad, Shaik M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2019
Konular:
Online Erişim: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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