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22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

Distal duplication 22q (22q13.3qter) is a rare condition with only 24 cases described so far. Parental balanced reciprocal translocations and pericentric inversions involving chromosome 22 predispose to the conception of an unbalanced offspring and are more frequently reported than de novo events. T...

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Publicado en:Mol Syndromol
Autores principales: Ujfalusi, Anikó, Nagy, Orsolya, Bessenyei, Beáta, Lente, Györgyi, Kántor, Irén, Borbély, Ádám J., Szakszon, Katalin
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445545/
https://ncbi.nlm.nih.gov/pubmed/32903739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000507103
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