Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
作者信息
Hatchwell E
出版信息
J Med Genet. 1996 Mar;33(3):261. doi: 10.1136/jmg.33.3.261.
Abstract
摘要
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Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.具有22q11染色体缺失且表型不一致的单卵双胞胎。
J Med Genet. 1996 Mar;33(3):261. doi: 10.1136/jmg.33.3.261.
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本文引用的文献
1
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.具有22q11染色体缺失且表型不一致的单卵双胞胎。
J Med Genet. 1995 Sep;32(9):746-8. doi: 10.1136/jmg.32.9.746.
2
Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.具有紊乱突变的小鼠散发性先天性异常的双打击模型。
Am J Hum Genet. 1993 May;52(5):866-74.
3
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.一对母女的腭心面综合征：临床表型的变异性
J Med Genet. 1993 Oct;30(10):825-7. doi: 10.1136/jmg.30.10.825.
4
Upper limb malformations in DiGeorge syndrome.DiGeorge综合征中的上肢畸形。
Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111.
5
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.velocardiofacial综合征与DiGeorge序列合并脊髓脊膜膨出及22q11区域缺失
Am J Med Genet. 1994 Oct 1;52(4):445-9. doi: 10.1002/ajmg.1320520410.
6
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.一名患有伯纳德-索利尔综合征且22q11.2区域存在迪乔治/心脏-颜面综合征染色体区域缺失的患者的鉴定。
Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763.
7
Cerebellar atrophy in a patient with velocardiofacial syndrome.一名患有心脏颜面综合征患者的小脑萎缩。
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Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter.
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Chromosomal deletion and retinoblastoma.染色体缺失与视网膜母细胞瘤
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