The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. (Q55060248)

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title

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review (English)

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multiple congenital anomalies-hypotonia-seizures syndrome 1

6 March 2020

main subject

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author

Natasha T Strande

3

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Jonathan S Berg

11

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Kirk C Wilhelmsen

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author name string

Natario L Couser

1

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Maheer M Masood

2

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Ann Katherine M Foreman

4

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Kristy Crooks

5

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Karen E Weck

6

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Mei Lu

7

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Myra Roche

9

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James P Evans

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Cynthia M Powell

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language of work or name

English

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publication date

29 April 2015

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American Journal of Medical Genetics

6 March 2020

published in

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volume

167A

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issue

9

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page(s)

2176-2181

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

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast

21 January 2018

1 reference

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Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37129

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37129

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PubMed publication ID

25920937

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