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

Internet

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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