Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

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http://www.wikidata.org/entity/Q43168549
Using whole-exome sequencing to identify inherited causes of autism.A canine model of Cohen syndrome: Trapped Neutrophil SyndromeGenomic insights into early-onset obesity.Cohen syndrome - a rare genetic cause of hypotonia in children.Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisClinical variability of genetic isolates of Cohen syndrome.A systematic review of genetic syndromes with obesity.Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21).Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
P2860

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Item
http://www.wikidata.org/entity/Q43168549
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2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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name
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@en
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@nl
type
label
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@en
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@nl
prefLabel
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@en
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932