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Hereditary multicentric osteolysis with recessive transmission: a new syndrome.

作者信息

Torg J S, DiGeorge A M, Kirkpatrick J A, Trujillo M M

出版信息

J Pediatr. 1969 Aug;75(2):243-52. doi: 10.1016/s0022-3476(69)80395-1.

DOI:10.1016/s0022-3476(69)80395-1
PMID:5795345
Abstract
摘要

相似文献

1
Hereditary multicentric osteolysis with recessive transmission: a new syndrome.隐性遗传的遗传性多中心骨质溶解:一种新综合征。
J Pediatr. 1969 Aug;75(2):243-52. doi: 10.1016/s0022-3476(69)80395-1.
2
Idiopathic multicentric osteolysis.特发性多中心骨质溶解症
AJR Am J Roentgenol. 1976 Jan;126(1):23-31. doi: 10.2214/ajr.126.1.23.
3
Hereditary osteolysis. A clinical, radiological and chemical study.遗传性骨质溶解。一项临床、放射学及化学研究。
Radiology. 1973 Jul;108(1):99-105. doi: 10.1148/108.1.99.
4
Familial vanishing limbs: four generations of idiopathic multicentric osteolysis.家族性肢体消失:四代特发性多中心骨质溶解症
Clin Radiol. 1983 Sep;34(5):585-8. doi: 10.1016/s0009-9260(83)80174-3.
5
[Essential acro-osteolysis: congenital, mainly osseous malformations, chronic nephropathy (a new osteolyso-renal syndrome of hereditary nature].[原发性肢端骨质溶解症:先天性,主要为骨骼畸形、慢性肾病(一种遗传性新骨溶解-肾综合征)]
Bull Mem Acad R Med Belg. 1977;132(9):517-27.
6
[Essential acro-osteolysis of carpal and tarsal onset with nephropathy].
Arch Fr Pediatr. 1971 Jun-Jul;28(6):615-30.
7
Idiopathic multicentric osteolysis. Report of an affected father and son.特发性多中心骨质溶解症。一例患病父子的报告。
Arthritis Rheum. 1978 Apr;21(3):367-76. doi: 10.1002/art.1780210313.
8
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature.特发性多中心骨质溶解症:两例新病例报告及文献综述
Am J Med Genet. 1989 Apr;32(4):556. doi: 10.1002/ajmg.1320320430.
9
Essential osteolysis with nephropathy.伴有肾病的原发性骨质溶解症。
J Can Assoc Radiol. 1973 Jun;24(2):98-103.
10
Primary idiopathic osteolysis: description of a family.原发性特发性骨质溶解症:一个家族的描述。
Ann Rheum Dis. 1992 Sep;51(9):1074-8. doi: 10.1136/ard.51.9.1074.

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Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.对患有多中心性骨质溶解、结节病和关节病的同胞中影响MMP2催化结构域的一种新型突变的功能表征。
J Hum Genet. 2014 Nov;59(11):631-7. doi: 10.1038/jhg.2014.84. Epub 2014 Oct 2.
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Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.基质金属蛋白酶2(MMP2)基因突变患者——病例报告及文献综述
J Clin Res Pediatr Endocrinol. 2014;6(1):40-6. doi: 10.4274/Jcrpe.1166.
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Asian Spine J. 2013 Sep;7(3):242-7. doi: 10.4184/asj.2013.7.3.242. Epub 2013 Sep 4.
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Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.遗传性多中心骨质溶解症,腕跗骨受累,酷似幼年特发性关节炎。
Eur J Pediatr. 2004 Oct;163(10):612-8. doi: 10.1007/s00431-004-1502-1.
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Close-wedge osteotomy for bony locking stiffness of the elbow in Gorham disease patients: a case report.闭合楔形截骨术治疗戈谢病患者肘关节骨性锁定僵硬:一例报告
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