Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

Item
http://www.wikidata.org/entity/Q57206987
Q57921909
sameAs
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Pathogenic variants in non-protein-coding sequences.Minor splicing pathway is not minor any more: implications for the pathogenesis of motor neuron diseases.Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type IProfound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome
P2860

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

Item
http://www.wikidata.org/entity/Q57206987
description
im Juni 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 2012
@uk
name
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@en
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@nl
type
label
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@en
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@nl
prefLabel
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@en
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Expanding the phenotypic and m ...... tic primordial dwarfism type I
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921