Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
about
De novo inverted duplication of chromosome 7q.X inactivation patterns in female monozygotic twins and their familiesUneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.Monozygotic twins discordant for Aicardi syndromeExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Some causes of genotypic and phenotypic discordance in monozygotic twin pairs.1992 American Society of Human Genetics presidential address: back to the future.Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyDiscordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.Genetic and non-genetic theories on the etiology of polycystic ovary syndrome.Genetic control of X inactivation and processes leading to X-inactivation skewing.Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
P2860
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P2860
Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Female twin with Hunter diseas ...... me: a consequence of twinning.
@ast
Female twin with Hunter diseas ...... me: a consequence of twinning.
@en
type
label
Female twin with Hunter diseas ...... me: a consequence of twinning.
@ast
Female twin with Hunter diseas ...... me: a consequence of twinning.
@en
prefLabel
Female twin with Hunter diseas ...... me: a consequence of twinning.
@ast
Female twin with Hunter diseas ...... me: a consequence of twinning.
@en
P2093
P356
P1476
Female twin with Hunter diseas ...... me: a consequence of twinning.
@en
P2093
Middleton-Price H
Williams N
Winchester B
P304
P356
10.1002/AJMG.1320440625
P577
1992-12-01T00:00:00Z