Heterogeneity of the autosomal dominant split hand/split foot malformation.
作者信息
Zlotogora J
出版信息
Am J Hum Genet. 1995 Jan;56(1):341-3.
Abstract
摘要
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Heterogeneity of the autosomal dominant split hand/split foot malformation.常染色体显性分裂手/分裂足畸形的异质性。
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Is there an autosomal recessive form of the split hand and split foot malformation?是否存在常染色体隐性遗传型的裂手裂足畸形？
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Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation.
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Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.对一个庞大阿拉伯家族中伴有长骨缺陷的手足裂畸形进行全基因组连锁扫描，在染色体1q42.2 - q43和6q14.1上鉴定出两个新的易感基因座。
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本文引用的文献
1
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.一个家族中出现的裂手/裂足畸形，该家族存在一条平衡易位染色体，其断点位于7q22.1。
Am J Med Genet. 1993 Nov 1;47(6):823-31. doi: 10.1002/ajmg.1320470606.
2
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.7号染色体q21.3 - q22.1区域常染色体显性遗传的裂手/裂足基因座的精细定位。
Am J Hum Genet. 1994 Jul;55(1):12-20.
3
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.人类常染色体显性分裂手/分裂足畸形中基因座异质性的证据。
Am J Hum Genet. 1994 Jul;55(1):21-6.
4
The genetics of human limb development.
Am J Hum Genet. 1994 Jul;55(1):1-6.
5
On the inheritance of the split hand/split foot malformation.关于裂手/裂足畸形的遗传
Am J Med Genet. 1994 Oct 15;53(1):29-32. doi: 10.1002/ajmg.1320530107.
6
Anomalous inheritance in a kindred with split hand, split foot malformation.一例患有并指（趾）畸形家族中的异常遗传。
Eur J Pediatr. 1988 Feb;147(2):202-5. doi: 10.1007/BF00442225.
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