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Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.手指弯曲与头发稀疏：一例有趣的1型毛发鼻指综合征病例。
BMJ Case Rep. 2015 Jan 27;2015:bcr2014207645. doi: 10.1136/bcr-2014-207645.
2
What is your diagnosis? Trichorhinophalangeal syndrome type I.你的诊断是什么？I型毛发鼻指综合征。
Cutis. 2012 Feb;89(2):56, 73-4.
3
Trichorhinophalangeal syndrome.毛发鼻指综合征
Reumatol Clin (Engl Ed). 2020 Nov-Dec;16(6):499-501. doi: 10.1016/j.reuma.2018.08.015. Epub 2018 Dec 3.
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An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.1 型三联征骨-甲-外胚层发育不良的早期诊断：病例报告及文献复习。
Ital J Pediatr. 2018 Nov 20;44(1):138. doi: 10.1186/s13052-018-0580-z.
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Trichorhinophalangeal dysplasia (Giedion syndrome). A case report.毛发鼻指骨发育不良（吉迪恩综合征）。病例报告。
Clin Pediatr (Phila). 1978 Jan;17(1):96-8. doi: 10.1177/000992287801700114.
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Cone-shaped epiphysis.锥形骨骺。
Am J Phys Med Rehabil. 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034.
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The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report.锥形束计算机断层扫描在I型毛发鼻指综合征评估中的应用——病例报告
J Orthod. 2013 Mar;40(1):47-52. doi: 10.1179/1465313312Y.0000000032.
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Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features.I型毛发鼻指综合征——临床、显微镜及分子特征
Indian J Dermatol Venereol Leprol. 2014 Jan-Feb;80(1):54-7. doi: 10.4103/0378-6323.125515.
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Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.一名患有毛发-鼻-指综合征的12岁女孩发生病理性骨折的非骨化性纤维瘤：病例报告
BMC Med Genet. 2018 Dec 12;19(1):211. doi: 10.1186/s12881-018-0732-4.
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Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.I型毛发-鼻-指（趾）综合征的骨骼异常
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本文引用的文献
1
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.I型毛发鼻指综合征：一名TRPS1基因存在两种新型不同突变的患者。
Case Rep Genet. 2013;2013:748057. doi: 10.1155/2013/748057. Epub 2013 Apr 17.
2
The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.毛发-鼻-指（趾）综合征。7个家系14例报告。
J Bone Joint Surg Br. 1986 Mar;68(2):311-4. doi: 10.1302/0301-620X.68B2.3958020.
3
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.I型毛发鼻指综合征：症状与体征、放射学及遗传学
Ann Rheum Dis. 1986 Jan;45(1):31-6. doi: 10.1136/ard.45.1.31.
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