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We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited… Click to show full abstract
We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in all three family members: Birt‐Hogg‐Dubé syndrome and Li‐Fraumeni syndrome. The corresponding genes (FLCN and TP53) are both located on the short arm of chromosome 17.
Keywords:
cell carcinoma;
renal cell;
carcinoma brain;
brain tumors;
flcn tp53
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!