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A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes

1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in som...

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Detalles Bibliográficos
Autores principales:	Kessi, Miriam, Peng, Jing, Yang, Lifen, Duan, Haolin, Tang, Yulin, Yin, Fei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6153526/ https://www.ncbi.nlm.nih.gov/pubmed/30263904 http://dx.doi.org/10.1177/2329048X18798200

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