A Missense Pathogenic Variant in a Conserved Region of < b > < i > CNTNAP2 < /i > < /b > Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family

Conclusion: This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by documenting the clinical features and genetic findings of the patients.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research