Further Evidence of a Continuum in the Clinical Spectrum of Dominant < b > < i > PIEZO2 < /i > < /b > -Related Disorders and Implications in Cerebellar Anomalies

Conclusion: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygousPIEZO2-related disorders represent a continuum with overlapping phenotypic features.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research