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名词信息
中 文 名:
Kniest'S 发育不良
英 文 名:
Kniest' s dysplasia (Pseudometatrophic dysplasia)
中文又称:
假性后生营养性发育不良
中文曾称:
名词来源:
所属专业:
骨科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Kniest' s dysplasia (Pseudometatrophic dysplasia)
相关文献:
Type II Collagen Disorders Overview.
Gregersen PA, Savarirayan R.
2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews
®
[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:31021589
Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP.
Eye (Lond). 2015 Apr;29(4):475-82. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16.
PMID:25592122
[Kniest's dysplasia].
Tscherninkov S, Alexandrov A.
Radiol Diagn (Berl). 1990;31(3):267-71.
PMID:2367633
Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up.
Kozić S, Sestan B, Matovinović D.
Acta Med Okayama. 1997 Oct;51(5):285-94. doi: 10.18926/AMO/30791.
PMID:9359927
[Kniest dysplasia due to mutation of COL2A1 gene].
Wu M, Liu L, Zhou Z, Sheng H, Yin X, Li X, Cheng J, Huang Y, Cai Y, Li C, Fan L, Liu H.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):323-6. doi: 10.3760/cma.j.issn.1003-9406.2015.03.004.
PMID:26037341
Fetal magnetic resonance imaging of skeletal dysplasias.
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM.
Pediatr Radiol. 2020 Feb;50(2):224-233. doi: 10.1007/s00247-019-04537-8. Epub 2019 Nov 27.
PMID:31776601
The ocular findings in Kniest dysplasia.
Maumenee IH, Traboulsi EI.
Am J Ophthalmol. 1985 Jul 15;100(1):155-60. doi: 10.1016/s0002-9394(14)74998-0.
PMID:4014370
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B.
Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208.
PMID:8157027
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
Spranger J, Winterpacht A, Zabel B.
Am J Med Genet. 1997 Mar 3;69(1):79-84. doi: 10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l.
PMID:9066888
Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report.
Tetreault A, Ramalingam W, Black J, Miller NH, Donaldson N.
JBJS Case Connect. 2018 Oct-Dec;8(4):e78. doi: 10.2106/JBJS.CC.18.00047.
PMID:30303846
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