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A comprehensive list of human microdeletion and microduplication syndromes

OBJECTIVE: The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. While the common recurrent copy number variants (CNVs) whic...

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Detalles Bibliográficos
Autores principales:	Wetzel, Alyssa S., Darbro, Benjamin W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Data Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701415/ https://www.ncbi.nlm.nih.gov/pubmed/36435749 http://dx.doi.org/10.1186/s12863-022-01093-3

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