PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

P2860

Q47558052-5188C387-91E4-4175-B3EB-B277CBA2024A Q52659255-18B73D81-2B9D-439C-BB32-046256552EF9

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PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

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http://www.wikidata.org/entity/Q41920155

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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PGAP3-related hyperphosphatasi ...... a homozygous founder mutation.

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PGAP3-related hyperphosphatasi ...... a homozygous founder mutation.

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PGAP3-related hyperphosphatasi ...... a homozygous founder mutation.

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P1476

PGAP3-related hyperphosphatasi ...... a homozygous founder mutation.

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H M Elbendary

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M S Abdel-Hamid

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S F Abdel-Ghafar

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Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Biosynthesis and deficiencies of glycosylphosphatidylinositol

GDE2 promotes neurogenesis by glycosylphosphatidylinositol-anchor cleavage of RECK

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

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84-91

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scholarly article

P356

10.1111/CGE.13033

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Maha Zaki

Mahmoud Y Issa

Ghada A Otaify

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2017-04-08T00:00:00Z

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28390064

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PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

about

P2860

P2860

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698