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A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene
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참고문헌 (5)
- Antaya RJ, "Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene", Am J Dermatopathol, 29, pp.99~103 (2007)
- Dowling O, "Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis", Am J Hum Genet, 73, pp.957~966 (2003)
- Shieh JTC, "GeneReviews®" (2013), University of Washington
- Scobie HM, "Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor", Proc Natl Acad Sci U S A, 100, pp.5170~5174 (2003)
- Mantri MD, "Hyaline fibromatosis syndrome : a rare inherited disorder", Indian J Dermatol, 61, pp.580~ (2016)
관련 논문AI추천
Juvenile Hyaline Fibromatosis박경태, 성명훈, 장동엽대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2010 · 제3권 제2호A Giant Aneurysmal Benign Fibrous Histiocytoma with Muscle Involvement: A Rare Case Report변지원, 신정현, 윤희성, 이선복, 이시협, 최광성, 허지혜, 현한나대한피부과학회 · Annals of Dermatology2021 · 제33권 제3호Novel PTCH1 Gene Mutation in a Patient with Gorlin‒Goltz SyndromeAyse Serap Karadag, Emin Ozlu, Gozde Yesil, Ibrahim Akalın, Ilkin Zindancı, Necmettin Akdeniz, Sarenur Yılmaz, Seyma Ozkanlı, Tugba Kevser Uzuncakmak대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호A Case of Angiomatoid Fibrous Histiocytoma Presenting as Subcutaneous Nodule in a 4-Year-Old Girl강현지, 원종현, 이미우, 이우진, 최지호대한피부과학회 · Annals of Dermatology2018 · 제30권 제2호A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature김민재, 김보람, 김지우, 나정임, 성문우, 이지수대한피부과학회 · Annals of Dermatology2023 · 제35권 제1호Pachyonychia Congenita with a Novel Variant in the K RT16 Gene, c.348_379delinsAA고정민, 문제호, 허근영대한피부과학회 · Annals of Dermatology2022 · 제34권 제6호
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