(Q54563073)

English

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.

scientific article published on 20 November 2013

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/24259184

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. (English)

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Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/24259184

Gijs van Haaften

10

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PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/24259184

Adrianus J van Vught

6

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Adrianus J van Vught

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1 June 2018

http://europepmc.org/abstract/MED/24259184

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Saskia N van der Crabben

1

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Magdalena Harakalova

2

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Europe PubMed Central

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Eva H Brilstra

3

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Europe PubMed Central

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Frédérique M C van Berkestijn

4

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Floris C Hofstede

5

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Edwin Cuppen

7

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Wigard Kloosterman

8

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Hans Kristian Ploos van Amstel

9

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Mieke M van Haelst

11

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1 June 2018

http://europepmc.org/abstract/MED/24259184

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publication date

20 November 2013

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1 June 2018

http://europepmc.org/abstract/MED/24259184

American Journal of Medical Genetics

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1 June 2018

http://europepmc.org/abstract/MED/24259184

164A

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1 June 2018

http://europepmc.org/abstract/MED/24259184

1

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1 June 2018

http://europepmc.org/abstract/MED/24259184

29-35

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1 June 2018

http://europepmc.org/abstract/MED/24259184

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36184

21 January 2018

Identifiers

10.1002/AJMG.A.36184

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/24259184

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 June 2018

http://europepmc.org/abstract/MED/24259184

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