Tuberous sclerosis.
作者信息
Fryer A E
出版信息
J R Soc Med. 1991 Dec;84(12):699-701. doi: 10.1177/014107689108401202.
Abstract
摘要
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A young lady with abdominal pain and facial lesions.一位患有腹痛和面部损伤的年轻女士。
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Macrodactyly in tuberous sclerosis.结节性硬化症中的巨指（趾）畸形
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本文引用的文献
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Evidence that the gene for tuberous sclerosis is on chromosome 9.结节性硬化症基因位于9号染色体上的证据。
Lancet. 1987 Mar 21;1(8534):659-61. doi: 10.1016/s0140-6736(87)90416-8.
2
Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.使用针对结节性硬化症高危家庭的全面筛查方案时的诊断和咨询困难。
J Med Genet. 1989 Nov;26(11):694-703. doi: 10.1136/jmg.26.11.694.
3
Tuberous sclerosis presenting with fetal and neonatal cardiac tumours.结节性硬化症伴发胎儿及新生儿心脏肿瘤。
Arch Dis Child. 1990 Apr;65(4 Spec No):377-9. doi: 10.1136/adc.65.4_spec_no.377.
4
The value of investigation for genetic counselling in tuberous sclerosis.结节性硬化症遗传咨询的调查价值。
J Med Genet. 1990 Apr;27(4):217-23. doi: 10.1136/jmg.27.4.217.
5
Tuberous sclerosis and infantile spasms.结节性硬化症与婴儿痉挛症。
Dev Med Child Neurol. 1990 Mar;32(3):203-9. doi: 10.1111/j.1469-8749.1990.tb16926.x.
6
Neuropsychiatric aspects of tuberous sclerosis.结节性硬化症的神经精神方面
Ann N Y Acad Sci. 1991;615:8-16. doi: 10.1111/j.1749-6632.1991.tb37743.x.
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Hamartomatous rectal polyps are common in tuberous sclerosis.
Ann N Y Acad Sci. 1991;615:71-80. doi: 10.1111/j.1749-6632.1991.tb37749.x.
8
Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.结节性硬化症的表型及诊断标准修订
Ann N Y Acad Sci. 1991;615:1-7. doi: 10.1111/j.1749-6632.1991.tb37742.x.
9
Non-penetrance in tuberous sclerosis.结节性硬化症的外显不全
J Med Genet. 1991 Jun;28(6):417-9. doi: 10.1136/jmg.28.6.417.
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On the incidence of fits and mental retardation in tuberous sclerosis.结节性硬化症中癫痫发作和智力迟钝的发病率
J Med Genet. 1991 Jun;28(6):395-7. doi: 10.1136/jmg.28.6.395.
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