Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
about
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.pigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromeMutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
P2860
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P2860
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
description
2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Phenotypic variability in hype ...... ogic deficit (Mabry syndrome).
@en
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit
@nl
type
label
Phenotypic variability in hype ...... ogic deficit (Mabry syndrome).
@en
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit
@nl
prefLabel
Phenotypic variability in hype ...... ogic deficit (Mabry syndrome).
@en
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit
@nl
P2093
P2860
P50
P356
P1476
Phenotypic variability in hype ...... ogic deficit (Mabry syndrome).
@en
P2093
Carlo Marcelis
Danielle M Andrade
David E C Cole
Elizabeth Sweeney
Han G Brunner
Helger G Yntema
Irene Stolte-Dijkstra
John A Phillips
Marjan M Nezarati
Miles D Thompson
P2860
P304
P356
10.1002/AJMG.A.35202
P407
P577
2012-02-07T00:00:00Z