Associated Papers
Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.
Torales LDG et al.
American Journal of Medical Genetics. Part A, 2025
A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanisms.
Pinzone JJ et al.
American Journal of Medical Genetics. Part A, 2007
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Sarquis MS et al.
American Journal of Human Genetics, 2006
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