Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Hypotonia and intellectual dis ...... ent with PIGN-related disease.

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Hypotonia and intellectual dis ...... ent with PIGN-related disease.

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type

Item

label

Hypotonia and intellectual dis ...... ent with PIGN-related disease.

@en

Hypotonia and intellectual dis ...... ent with PIGN-related disease.

@nl

prefLabel

Hypotonia and intellectual dis ...... ent with PIGN-related disease.

@en

Hypotonia and intellectual dis ...... ent with PIGN-related disease.

@nl

P1476

Hypotonia and intellectual dis ...... ient with PIGN-related disease

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P2093

Ahmed Abdelmoity

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Britton Zuccarelli

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Carol Saunders

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Emily Farrow

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Holly Welsh

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Lee Zellmer

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Neil Miller

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Robert A Brodsky

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Sarah Soden

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Xuan Yuan

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P2860

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

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

Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin

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

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

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

P2888

s12881-017-0481-9

P304

124

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P31

scholarly article

case report

P356

10.1186/S12881-017-0481-9

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P433

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P478

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P50

Isabelle Thiffault

P577

2017-11-02T00:00:00Z

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P6179

1092508475

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P698

29096607

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P921

disability

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5668960

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