A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome—A Case Report
Cowden syndrome (CS) is a rare hereditary disorder characterized by benign overgrowth in various tissues and a high risk of breast and thyroid cancer. CS is closely associated with pathogenic variants (PVs) in the phosphatase and tensin homolog (<i>PTEN</i>) tumor suppressor gene. PVs in...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-05-01
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| Series: | Pediatric Reports |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2036-7503/17/3/54 |
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