Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Pathogenic 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.Immunological aspects of congenital disorders of glycosylation (CDG): a review.What is new in CDG?Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromePGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
P2860
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P2860
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
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name
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@ast
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@en
type
label
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@ast
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@en
prefLabel
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@ast
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@en
P2093
P2860
P50
P356
P1476
Mutations in PIGY: expanding t ...... sphatidylinositol deficiencies
@en
P2093
Alistair T Pagnamenta
Anne Turner
Biljana Ilkovski
Brett Thomas
Daniel G Macarthur
David A Keays
David Sillence
Fabienne Brilot
Gina L O'Grady
Leigh B Waddell
P2860
P304
P356
10.1093/HMG/DDV331
P577
2015-08-20T00:00:00Z