Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

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Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.The role of tRNA synthetases in neurological and neuromuscular disorders.Expanding the clinical phenotype of IARS2-related mitochondrial disease

P2860

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P2860

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

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http://www.wikidata.org/entity/Q52888004

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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

@zh-my

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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name

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@en

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@nl

type

Item

label

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@en

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@nl

prefLabel

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@en

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@nl

P1476

Confirmation of CAGSSS syndrom ...... homozygous mutation in IARS2.

@en

P2093

Annette Haagerup

http://www.w3.org/2001/XMLSchema#string

Bernd Wollnik

http://www.w3.org/2001/XMLSchema#string

Gen Nishimura

http://www.w3.org/2001/XMLSchema#string

Holger Thiele

http://www.w3.org/2001/XMLSchema#string

Janine Altmüller

http://www.w3.org/2001/XMLSchema#string

Karin Kastberg Petersen

http://www.w3.org/2001/XMLSchema#string

Ok-Hwa Kim

http://www.w3.org/2001/XMLSchema#string

Pernille Axel Gregersen

http://www.w3.org/2001/XMLSchema#string

Shahida Moosa

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P2860

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy.

Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.

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1102-1108

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scholarly article

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10.1002/AJMG.A.38116

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English

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http://www.w3.org/2001/XMLSchema#string

P478

173

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Peter Nürnberg

Tae-Joon Cho

Ida Vogel

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2017-04-01T00:00:00Z

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P698

28328135

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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

about

P2860

P2860

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

description

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type

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P1433

P1476

P2093

P2860

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P356

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P433

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P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698