Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. (Q38710860)

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13 March 2020

title

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties (English)

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13 March 2020

5

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13 March 2020

Shota Nakamura

10

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13 March 2020

author name string

Junpei Tanigawa

1

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13 March 2020

Haruka Mimatsu

2

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13 March 2020

Seiji Mizuno

3

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13 March 2020

Nobuhiko Okamoto

4

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13 March 2020

Koji Tominaga

6

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13 March 2020

Hiroyuki Kidokoro

7

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13 March 2020

Yukako Muramatsu

8

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13 March 2020

Eriko Nishi

9

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13 March 2020

Daisuke Motooka

11

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13 March 2020

Noriko Nomura

12

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13 March 2020

Kiyoshi Hayasaka

13

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13 March 2020

Tetsuya Niihori

14

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13 March 2020

Yoko Aoki

15

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13 March 2020

Shin Nabatame

16

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13 March 2020

Masahiro Hayakawa

17

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13 March 2020

Jun Natsume

18

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13 March 2020

Keiichi Ozono

19

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13 March 2020

Taroh Kinoshita

20

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13 March 2020

Nobuaki Wakamatsu

21

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13 March 2020

Yoshiko Murakami

22

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13 March 2020

publication date

20 April 2017

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13 March 2020

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13 March 2020

volume

38

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13 March 2020

page(s)

805-815

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13 March 2020

issue

7

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Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

13 March 2020

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Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

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

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Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

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Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol

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

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Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

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Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

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

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A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.

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

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PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

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inferred from DOI database lookup

7 January 2021

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Identifiers

DOI

10.1002/HUMU.23219

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13 March 2020

1 reference