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跖骨短小一家系二例 被引量:3

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摘要 1 病例 先证者(如图1-Ⅱ1)男,藏族,18岁,未婚。在家长带领下前来就诊,以体格发育迟缓为主诉,当地医务人员诊断为大骨节病。查体:智力正常,身材矮小,身高136.8cm,体重35.2kg,整体体格发育不良,
出处 《中国优生与遗传杂志》 2014年第8期113-114,共2页 Chinese Journal of Birth Health & Heredity
基金 国家自然科学基金(81060228 81273155) 山东省自然科学基金(ZR2012HL47)
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  • 1王守诚,王志勇,冀金良,王立功.一个短指(趾)节病家系的调查[J].遗传,1989,11(3):32-33. 被引量:4
  • 2佘朝文,廖明健.一个短指(趾)少指(趾)节畸形家系的调查[J].遗传,1996,18(6):18-19. 被引量:2
  • 3邓佳云.四川跑子病调查报告[J].中国地方病学杂志,1988,5(4):273-275.
  • 4Cecil Textbook of Medicine 19th edition by Wyngaarden, Smith and Bennett, Copyright 1992 by W. B. Sannders Company, Philadephia, Pennsylvania.
  • 5Lee G, Dennis AA. Cecil Medicine (23th Edition)[M]. Philadelphia.. W.B. Saunders Company, 2007:1523 1538.
  • 6潘少川.小儿骨科学骨科核心知识[M].北京:人民卫生出版社,2006:347-379.
  • 7Fisher MC, Meyer C, Garber G, et al. Role of IGFBP2, IGF-I and IGF Ⅱ in regulating long bone growth [J]. Bone, 2005, 37 (6): 741-750.
  • 8Diehl D, Hessel E, Oesterle D, et al. IGFBP-2 overexpres- sion reduces the appearance of dysplastic aberrant crypt loci and inhibits growth of adenomas in chemically induced color- ectal carcinogenesis [J] . Int J Cancer, 2009, 124 (9): 2220-2225.
  • 9Del Campo M, Jones MC, Veraksa AN, et al. Monodac- tylous limbs and abnormal genitalia are associated with hem- izygosity for the human 2q31 region that includes the HOXD cluster [J]. Am J Hum Genet , 1999 , 65 (1) : 104-110.
  • 10Debeer P, Bacchelli C, Scambler PJ, et al. Severe digital abnormalities in a patient heterozygous for both a novel mis- sense mutation in HOXD13 and a polyalanine tract expan sion in HOXA18 [J].J Med Genet, 2002, S9 (11): 852- 856.

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  • 1祝青林,于贵瑞,蔡福,刘新安,李正泉,苏文,胡磊.中国紫外辐射的空间分布特征[J].资源科学,2005,27(1):108-113. 被引量:53
  • 2韦惠红,郑有飞.我国臭氧总量的时空分布特征[J].南京气象学院学报,2006,29(3):390-395. 被引量:28
  • 3廖永丰,王五一,张莉,杨林生.到达中国陆面的生物有效紫外线辐射强度分布[J].地理研究,2007,26(4):821-827. 被引量:24
  • 4Greenfield GB.Radiology of bone disease.3rd ed[M]. Lippincott, Philadelphia, 1980.216.
  • 5Julia V.Woelfle R. E.Brenner B.et al, Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation[J].J Orthop Sci, 2011,16 : 245-249.
  • 6Einspahr JG, Bowden GT, Alberts DS. Skin cancer chemopre- vention: strategies to save our skin [ J ]. Recent Results Cancer Res ,2003,163 : 151 - 164.
  • 7Rafferty TS, Beckett GT, Walker C, et al. Selenium protects pri- mary human keratinocytes from apoprosis induced by exposure to ultraviolet radiation [ J ]. Clin Exp Dermatol, 2003,28 ( 3 ) : 294 - 300.
  • 8Agusti S, Llabres M, Carreja B, et al. Contrasting sensitivity of marine biota to UV-B radiation between southern and northern hemispheres [ J ]. Estuaries and Coasts, DOI : 10.1007 / s12237 - 014 - 9790 - 9.
  • 9Manney GL, Santee ML, Rex M, et al. Unprecedented Arctic ozone loss in 2011[ J ]. Nature,2011,478:469 - 475.
  • 10Dugo MA, Han F, Tchounwou PB. Persistent polar depletion of stratospheric ozone and emergent mechanisms of ultraviolet radi- ation-mediated health dysregulation [ J ]. Reviews on Environ- mental Health,2012,27:103 - 116.

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