Research map: Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report

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  1. PTEN Hamartoma Tumor Syndrome: A Clinical Overview · Robert Pilarski · 2019 · 213 citations · Cited by this paper
  2. Clinical features and nonoperative strategy for first-time infected urachal cysts in infants · 2026 · Related
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  5. SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery · Neetu Saxena · 2015 · 124 citations · Cited by this paper
  6. Risk factors and a predictive model for delayed extubation in children undergoing primary repair of tetralogy of Fallot: a retrospective cohort study with rigorous methodological validation · 2026 · Related
  7. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome · Jessica L. Mester · 2012 · 101 citations · Cited by this paper
  8. Correlation analysis of cyclosporine A trough concentration with hematological and biochemical parameters: a retrospective study in pediatric aplastic anemia · 2026 · Related
  9. Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome · Mario Heindl · 2012 · 78 citations · Cited by this paper
  10. Artificial intelligence in pediatric arrhythmias: current landscape, unique challenges, and translational perspectives · 2026 · Related
  11. PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol · Joanne Yuen Yie Ngeow · 2014 · 64 citations · Cited by this paper
  12. KLF1 mutation-associated congenital dyserythropoietic anemia type IV: a case report and literature review · 2026 · Related
  13. PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy · David D. Dragoo · 2021 · 60 citations · Cited by this paper
  14. Retrospective analysis of the clinical value of targeted nursing using a game-based model in children undergoing auricular reconstruction for congenital microtia · 2026 · Related
  15. PTEN hamartoma tumor syndrome · Jessica L. Mester · 2015 · 55 citations · Cited by this paper
  16. Clinical application value of metagenomic next-generation sequencing in children with fever of unknown origin · 2026 · Related
  17. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication · Tetsuji Takayama · 2023 · 48 citations · Cited by this paper
  18. SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas · N. Armstrong · 2022 · 44 citations · Cited by this paper
  19. Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations · Lamis Yehia · 2018 · 42 citations · Cited by this paper
  20. PTEN regulates TLR5‐induced intestinal inflammation by controlling Mal/TIRAP recruitment · Yoon Jeong Choi · 2012 · 41 citations · Cited by this paper
  21. Hamartomatous Tumors in the Gastrointestinal Tract · Estelle Cauchin · 2015 · 40 citations · Cited by this paper
  22. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort · Linda A.J. Hendricks · 2022 · 31 citations · Cited by this paper
  23. Protein tyrosine phosphatases in skeletal development and diseases · Huiliang Yang · 2022 · 30 citations · Cited by this paper
  24. Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect—PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome · Vânia Nosé · 2016 · 29 citations · Cited by this paper
  25. Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients · Jennifer Borowsky · 2019 · 26 citations · Cited by this paper
  26. Escherichia coli Alpha-Hemolysin HlyA Induces Host Cell Polarity Changes, Epithelial Barrier Dysfunction and Cell Detachment in Human Colon Carcinoma Caco-2 Cell Model via PTEN-Dependent Dysregulation of Cell Junctions · Emanuel Schulz · 2021 · 22 citations · Cited by this paper
  27. PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? · Lamis Yehia · 2020 · 21 citations · Cited by this paper
  28. Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group · Andrew Dhawan · 2025 · 21 citations · Cited by this paper
  29. Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes · Angelica D’Amore · 2025 · 14 citations · Cited by this paper
  30. Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation · Hironori Arai · 2023 · 13 citations · Cited by this paper
  31. Thyroid pathology, a clue to PTEN hamartoma tumor syndrome · Yurimi Lee · 2023 · 12 citations · Cited by this paper
  32. Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome · Andrew Dhawan · 2024 · 11 citations · Cited by this paper
  33. A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome · Tobias Schwerd · 2015 · 8 citations · Cited by this paper
  34. Functional characterization of SDHB variants clarifies hereditary pheochromocytoma and paraganglioma risk and genotype-phenotype relationships · Sooyeon Lee · 2025 · 7 citations · Cited by this paper
  35. Cowden syndrome and the associated Lhermitte-Duclos disease – Case presentation · Iwona Stępniak · 2015 · 6 citations · Cited by this paper
  36. PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female · Rathika R Ramkumar · 2020 · 6 citations · Cited by this paper
  37. A clinical study on the expression of PTEN in renal cell carcinoma in children · Hong Lu · 2018 · 5 citations · Cited by this paper
  38. Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome · Esther M.G. Bormans · 2024 · 5 citations · Cited by this paper
  39. Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome · Peter P. Stanich · 2025 · 5 citations · Cited by this paper

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