New Report of a Different Clinical Presentation of < b > < i > CD151 < /i > < /b > Splicing Mutation (c.351+2T & #x3e;C): Could < b > < i > TSPAN11 < /i > < /b > be Considered as a Potential Modifier Gene for < b > < i > CD151 < /i > < /b > ?

This study supports the pathogenic effect of theCD151 variant c.351+2T#x3e;C, highlights the extensive variable expressivity amongst patients, reinforces the contribution of genomic content to clinical characteristics ofCD151 mutations, and accentuates the importance of modifier genes.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research