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
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