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Distal 22q11.2 Microduplication: Case Report and Review of the Literature

Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chro...

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Detalles Bibliográficos
Autores principales:	Pinchefsky, Elana, Laneuville, Laurence, Srour, Myriam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673001/ https://www.ncbi.nlm.nih.gov/pubmed/29147671 http://dx.doi.org/10.1177/2329048X17737651

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