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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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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2019
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| 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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