A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
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Neurological aspects of human glycosylation disordersBiosynthesis and deficiencies of glycosylphosphatidylinositolHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)The genotypic and phenotypic spectrum of PIGA deficiency.Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyA hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC modelAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Paroxysmal nocturnal hemoglobinuriaNovel genetic causes for cerebral visual impairmentGlycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in BxPC-3 Protein and Increases Cancer Cell Motility.Cerebral visual impairment and intellectual disability caused by PGAP1 variantsPathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.PIGO deficiency: palmoplantar keratoderma and novel mutationsMutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.An inner god: BEN E. KATZ (1921-2015) as geneticist.A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.X-Linked Sensorineural Hearing Loss: A Literature Review
P2860
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P2860
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
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name
A novel germline PIGA mutation ...... y with systemic iron-overload.
@en
A novel germline PIGA mutation ...... y with systemic iron-overload.
@nl
type
label
A novel germline PIGA mutation ...... y with systemic iron-overload.
@en
A novel germline PIGA mutation ...... y with systemic iron-overload.
@nl
prefLabel
A novel germline PIGA mutation ...... y with systemic iron-overload.
@en
A novel germline PIGA mutation ...... y with systemic iron-overload.
@nl
P2093
P2860
P356
P1476
A novel germline PIGA mutation ...... y with systemic iron-overload.
@en
P2093
Attila Kumanovics
Ben E Katz
Emily Coonrod
Holly Zhou
Jacob Durtschi
John C Carey
John M Opitz
Kalyan Mallempati
Karl V Voelkerding
Rebecca L Margraf
P2860
P356
10.1002/AJMG.A.36189
P407
P577
2013-11-20T00:00:00Z