Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
about
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IMutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostosesMutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteinsDelineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genesDiminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytesA 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneBreakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas familiesEtiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activityGenotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndromeDisorders caused by chromosome abnormalities.Of hedgehogs and hereditary bone tumors: re-examination of the pathogenesis of osteochondromas.Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.Langer-Giedion Syndrome: a Rare Case Report.Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective.Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.Molecular defects in the chondrodysplasias.An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.Defective EXT1 causes exostoses 1, TRPS2 and CHDSDefective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparanDefective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chainTwo patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome.Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome).Partial DiGeorge syndrome in two patients with a 10p rearrangement.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residueDefective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan_R-HSA-3656253
P2860
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P2860
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh-hant
name
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@en
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@nl
type
label
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@en
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@nl
prefLabel
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@en
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@nl
P2093
P356
P1476
Molecular dissection of a cont ...... n the Langer-Giedion syndrome.
@en
P2093
La Pillo B
Lüdecke HJ
Nardmann J
Parrish JE
Willems PJ
P356
10.1093/HMG/4.1.31
P577
1995-01-01T00:00:00Z