☆ 4.1 Article

Coffin-Siris syndrome: Clinical description of two cases

CLINICAL CASE REPORTS (2022)

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Ashley Vasko et al.

Summary: Coffin-Siris syndrome is a multi-system intellectual disability syndrome with characteristic dysmorphic features, developmental delays, and organ system anomalies. Genotype-phenotype correlations indicate that variants in different genes within the BAF complex lead to varying clinical presentations. However, individuals with BAF-related conditions are at risk of multiple aspects of the phenotype, necessitating comprehensive management and surveillance.

GENES (2021)

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Article Genetics & Heredity