Journal: New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Product Description:
These findings expand the clinical spectrum of RERE-related disorders, refine genotype-phenotype correlations, and support variant-specific approaches to management and genetic counseling.
Keyword(s):
1p36 deletion, NEDBEH; RERE, genotype-phenotype correlations, neurodevelopmental disorder.
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Professionals
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COVID-19 Related Data:
N/A