New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
about
Absence makes the search grow longerConditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.Possible functional links among brain- and skull-related genes selected in modern humansTargeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.Clinical review of genetic epileptic encephalopathiesRegulation of histone H3K4 methylation in brain development and disease.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.XLMR genes: update 1996.Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.Postmortem findings in the Coffin-Lowry Syndrome.Ocular manifestations in the X-linked intellectual disability syndromes.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.Coffin-Lowry syndrome: findings and dental treatment.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
P2860
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P2860
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
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
New X-linked syndrome with sei ...... enesis of the corpus callosum.
@en
type
label
New X-linked syndrome with sei ...... enesis of the corpus callosum.
@en
prefLabel
New X-linked syndrome with sei ...... enesis of the corpus callosum.
@en
P2093
P356
P1476
New X-linked syndrome with sei ...... enesis of the corpus callosum.
@en
P2093
P304
P356
10.1002/AJMG.1320430169
P577
1992-04-01T00:00:00Z