The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.
作者信息
Hughes-Benzie R, Allanson J, Hunter A, Cole T
出版信息
J Med Genet. 1992 Dec;29(12):928. doi: 10.1136/jmg.29.12.928-b.
Abstract
摘要
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The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.区分辛普森-戈拉比-贝梅尔综合征和贝克威思-维德曼综合征的重要性。
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本文引用的文献
1
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.维德曼-贝克威思综合征：对五个家族的系谱研究，证据表明其为具有可变表达性的常染色体显性遗传。
Am J Med Genet. 1986 May;24(1):41-55. doi: 10.1002/ajmg.1320240107.
2
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.家族性威德曼-贝克威思综合征和第二个肾母细胞瘤位点均定位于11p15.5。
Am J Hum Genet. 1989 May;44(5):711-9.
3
Monozygotic twinning and Wiedemann-Beckwith syndrome.单卵双胎与威德曼-贝克威思综合征。
Am J Med Genet. 1992 Feb 15;42(4):633-7. doi: 10.1002/ajmg.1320420440.
4
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
Am J Med Genet. 1992;43(1-2):428-35. doi: 10.1002/ajmg.1320430165.
5
Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.家族性贝克威思-维德曼综合征中父系印记的证据。
J Med Genet. 1992 Apr;29(4):221-5. doi: 10.1136/jmg.29.4.221.
6
Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.贝克威思-维德曼综合征：对传递性女性过多现象的发病机制的论证。
J Med Genet. 1992 Apr;29(4):217-20. doi: 10.1136/jmg.29.4.217.
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