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1. 毛細血管奇形（ポートワイン母斑）とそれに関連する症候群capillary malformations port wine stains and associated syndromes [show details]
… cell types and tissues, leading to the syndromic phenotype. Inactivating mutations in the RASA1 gene, which cause the autosomal dominant capillary malformation-arteriovenous malformation syndrome, may be …
2. スタージウェーバー症候群sturge weber syndrome [show details]
… but in none of 4 participants with other cerebrovascular malformations and in none of 6 controls. The prevalence of the mutation in affected tissues ranged from 1 to 18 percent. These findings confirm the …
3. クリッペル・トレノネー・ウェーバー症候群：臨床症状、診断、マネージメントklippel trenaunay syndrome clinical manifestations diagnosis and management [show details]
…any two of three cardinal features, including capillary malformation, soft tissue or bony hypertrophy, and varicose veins or venous malformations . We will use the 2018 classification of the International …
4. 小児の水頭症：病態生理、発症機序、病因hydrocephalus in children physiology pathogenesis and etiology [show details]
…This term refers to enlargement of the CSF spaces caused by reduced volume of brain tissue due to atrophy or malformation. It is not accompanied by increased ICP. "Benign external hydrocephalus" – Benign …
5. 小児の水頭症：臨床的特徴と診断hydrocephalus in children clinical features and diagnosis [show details]
…This term refers to enlargement of the CSF spaces caused by reduced volume of brain tissue due to atrophy or malformation. It is not accompanied by increased ICP. "Benign external hydrocephalus" – Benign …