CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.
2/5 보강
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
환자: a germline likely pathogenic variant in CBL with ten café au lait macules and a recurrent granular cell tumor
I · Intervention 중재 / 시술
추출되지 않음
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
Granular cell tumors have not been described in this condition. This case broadens the recognized clinical spectrum of CBL syndrome and challenges the existing genetic testing approach for patients with greater than six café au lait macules.
OpenAlex 토픽 ·
Tumors and Oncological Cases
Tuberous Sclerosis Complex Research
Chromatin Remodeling and Cancer
CBL syndrome is a RASopathy with phenotypic variability including neurodevelopmental differences, cardiac defects, growth delay, dysmorphic and cutaneous findings, hematologic, immunologic, and vascul
APA
Caitlin Harrington, Emily Kohl, et al. (2026). CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.70165
MLA
Caitlin Harrington, et al.. "CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.." American journal of medical genetics. Part A, 2026.
PMID
41964119 ↗
Abstract 한글 요약
CBL syndrome is a RASopathy with phenotypic variability including neurodevelopmental differences, cardiac defects, growth delay, dysmorphic and cutaneous findings, hematologic, immunologic, and vascular manifestations, and predisposition to juvenile myelomonocytic leukemia (JMML). We present a patient with a germline likely pathogenic variant in CBL with ten café au lait macules and a recurrent granular cell tumor. Granular cell tumors have not been described in this condition. This case broadens the recognized clinical spectrum of CBL syndrome and challenges the existing genetic testing approach for patients with greater than six café au lait macules.
🏷️ 키워드 / MeSH 📖 같은 키워드 OA만
🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
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