Novel Partial MBD5 Duplication in A Patient Expands and Refines the Phenotypic Spectrum of 2q23.1 Duplication Syndrome
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Presenting Author - Jonathan Chang, student DO; Co-Author - Richard Webster, MD; Co-Author - Greg Peters, PhD, FFSc(RCPA), FHGSA; Co-Author - Sondhya Ghedia, MD; Co-Author - Sureni V. Mullegama;
Meta Tag
Clinical Cytogenetics
Delineation of Diseases
Genotype-Phenotype Correlations
Intellectual disability
Microarray
Molecular Cytogenetics
Co-Author Richard Webster, MD
Co-Author Greg Peters, PhD, FFSc(RCPA), FHGSA
Co-Author Sondhya Ghedia, MD
Co-Author Sureni V. Mullegama
Presenting Author Jonathan Chang, student DO
Keywords
2q23.1 duplication syndrome
MBD5 gene duplication
neurodevelopmental disorders
developmental delay
language delay
intellectual disability
ataxia
dysarthria
nystagmus
hypotonia

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