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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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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Ujfalusi, Anikó, Nagy, Orsolya, Bessenyei, Beáta, Lente, Györgyi, Kántor, Irén, Borbély, Ádám J., Szakszon, Katalin
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
Assuntos:
Acesso em linha: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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