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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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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Ujfalusi, Anikó, Nagy, Orsolya, Bessenyei, Beáta, Lente, Györgyi, Kántor, Irén, Borbély, Ádám J., Szakszon, Katalin
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Accés en línia: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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