A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. (Q52908534)

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2 April 2020

title

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency (English)

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2 April 2020

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4

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2 April 2020

author name string

Masaki Takagi

1

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2 April 2020

Kazushige Dobashi

2

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2 April 2020

Keiko Nagahara

3

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2 April 2020

Gen Nishimura

5

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2 April 2020

Ryuji Fukuzawa

6

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2 April 2020

Satoshi Narumi

7

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2 April 2020

Tomonobu Hasegawa

8

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2 April 2020

language of work or name

English

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publication date

12 February 2017

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American Journal of Medical Genetics

2 April 2020

published in

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2 April 2020

volume

173

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2 April 2020

page(s)

1071-1076

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2 April 2020

issue

4

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Phenotypes of AKT3 deletion: a case report and literature review.

2 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

An activating mutation of AKT2 and human hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

Somatic activation of AKT3 causes hemispheric developmental brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38099

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38099

1 reference

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2 April 2020

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