Chondrodysplasia punctata and maternal systemic lupus erythematosus.
作者信息
Toriello H V
机构信息
Genetics Services, DeVos Children's Hospital, Spectrum Health, Grand Rapids, MI 49503, USA.
出版信息
J Med Genet. 1998 Aug;35(8):698-9. doi: 10.1136/jmg.35.8.698.
Abstract
摘要
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本文引用的文献
1
Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.新生儿狼疮综合征：一例伴有点状软骨发育不良及其他异常表现的病例。
J Med Genet. 1998 Aug;35(8):695-7. doi: 10.1136/jmg.35.8.695.
2
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?两例同胞患母体系统性红斑狼疮和点状软骨发育不良：表型模拟还是巧合？
J Med Genet. 1998 Aug;35(8):690-4. doi: 10.1136/jmg.35.8.690.
3
Initiation of phenytoin teratogenesis: pharmacologically induced embryonic bradycardia and arrhythmia resulting in hypoxia and possible free radical damage at reoxygenation.苯妥英致畸作用的起始：药理学诱导的胚胎心动过缓和心律失常，导致缺氧以及复氧时可能的自由基损伤。
Teratology. 1997 Oct;56(4):271-81. doi: 10.1002/(SICI)1096-9926(199710)56:4<271::AID-TERA6>3.0.CO;2-1.
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Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.维生素K缺乏胚胎病：一种因胚胎维生素K代谢紊乱导致的华法林胚胎病的拟表型。
Am J Med Genet. 1997 Oct 17;72(2):129-34.
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Lupus anticoagulants: strong association with the major histocompatibility complex class II and platelet antibodies.
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Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.人类PEX12基因的分离，该基因在过氧化物酶体生物发生障碍3型中发生突变。
Nat Genet. 1997 Apr;15(4):385-8. doi: 10.1038/ng0497-385.
8
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.肢根型点状软骨发育不良是由人类PEX7缺乏引起的，PEX7是酵母PTS2受体的同源物。
Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.
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PEX genes on the rise.PEX基因正在增加。
Nat Genet. 1997 Apr;15(4):331-3. doi: 10.1038/ng0497-331.
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Acquired hypoprothrombinemia: effects of danazol treatment.
Am J Hematol. 1996 Dec;53(4):272-6. doi: 10.1002/(SICI)1096-8652(199612)53:4<272::AID-AJH14>3.0.CO;2-E.
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