Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
about
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNARefining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Primordial dwarfism: overview of clinical and genetic aspects.Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.Mechanisms and pathways of growth failure in primordial dwarfism.Aberrant splicing in neurological diseases.Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.Minor splicing snRNAs are enriched in the developing mouse CNS and are crucial for survival of differentiating retinal neurons.Morphometric appraisal of the skull of Caroline Crachami, the Sicilian "dwarf" 1815?-1824: a contribution to the study of primordial microcephalic dwarfism.Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsFurther delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I
P2860
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P2860
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Microcephalic osteodysplastic ...... and review of the literature.
@en
type
label
Microcephalic osteodysplastic ...... and review of the literature.
@en
prefLabel
Microcephalic osteodysplastic ...... and review of the literature.
@en
P2093
P1476
Microcephalic osteodysplastic ...... and review of the literature.
@en
P2093
P356
10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5
P577
1998-10-01T00:00:00Z