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Case report: Novel phenotype in central 22q11.2 deletion syndrome

Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to faci...

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Detalles Bibliográficos
Autores principales: Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752388/
https://www.ncbi.nlm.nih.gov/pubmed/33363922
http://dx.doi.org/10.1002/ccr3.2870

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