De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
about
The Greig cephalopolysyndactyly syndromePoint mutations in GLI3 lead to misregulation of its subcellular localization.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsMolecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development.Molecular and comparative genetics of mental retardation.New insights into genotype-phenotype correlation for GLI3 mutations.Polydactyly: how many disorders and how many genes? 2010 update.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsSonic Hedgehog Signaling and VACTERL Association.Gli3 controls corpus callosum formation by positioning midline guideposts during telencephalic patterning.The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Primary cilia in neurodevelopmental disorders.Pallister-Hall syndrome has gone the way of modern medical genetics.Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.Motile and non-motile cilia in human pathology: from function to phenotypes.GLI3-related polydactyly: a review.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.A de novo GLI3 mutation in a patient with acrocallosal syndromeGreig syndrome based on a de novo translocationGli3 controls the onset of cortical neurogenesis by regulating the radial glial cell cycle through expressionSonic Hedgehog Signaling Rises to the Surface: Emerging Roles in Neocortical Development
P2860
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P2860
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
De novo GLI3 mutation in acroc ...... and overlap with murine models
@ast
De novo GLI3 mutation in acroc ...... and overlap with murine models
@en
De novo GLI3 mutation in acroc ...... and overlap with murine models
@nl
type
label
De novo GLI3 mutation in acroc ...... and overlap with murine models
@ast
De novo GLI3 mutation in acroc ...... and overlap with murine models
@en
De novo GLI3 mutation in acroc ...... and overlap with murine models
@nl
prefLabel
De novo GLI3 mutation in acroc ...... and overlap with murine models
@ast
De novo GLI3 mutation in acroc ...... and overlap with murine models
@en
De novo GLI3 mutation in acroc ...... and overlap with murine models
@nl
P2093
P356
P1476
De novo GLI3 mutation in acroc ...... and overlap with murine models
@en
P2093
P304
P356
10.1136/JMG.39.11.804
P407
P50
P577
2002-11-01T00:00:00Z