X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
作者信息
Fryns J P, Spaepen A, Cassiman J J, van den Berghe H
出版信息
J Med Genet. 1991 Jun;28(6):429-31. doi: 10.1136/jmg.28.6.429-a.
Abstract
摘要
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X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
J Med Genet. 1991 Jun;28(6):429-31. doi: 10.1136/jmg.28.6.429-a.
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1
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3
The MASA syndrome: a new heritable mental retardation syndrome.
Clin Genet. 1974;5(4):298-306. doi: 10.1111/j.1399-0004.1974.tb01697.x.
4
Linkage studies of X-linked recessive spastic paraplegia using DNA probes.
Hum Genet. 1986 Jul;73(3):264-6. doi: 10.1007/BF00401241.
5
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Am J Med Genet. 1987 Aug;27(4):921-8. doi: 10.1002/ajmg.1320270419.
6
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2).
Am J Med Genet. 1988 May-Jun;30(1-2):493-508. doi: 10.1002/ajmg.1320300152.
7
MASA syndrome: further clinical delineation and chromosomal localisation.
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8
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9
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