A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

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A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

P2860

Q41929093-17C361F5-D756-475E-9817-86B03070EEC7 Q52944262-829CF61C-3584-4BCF-AF70-6AC18EE1ED6B

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A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

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http://www.wikidata.org/entity/Q43707344

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

@wuu

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

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@zh-sg

2013年學術文章

@yue

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@zh

2013年學術文章

@zh-hant

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A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@en

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@nl

type

Item

label

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@en

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@nl

prefLabel

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@en

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@nl

P1476

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

@en

P2093

Nadia Akawi

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P2860

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data.

Wiedemann-Rautenstrauch syndrome: first Indian case.

Progeria: a cell culture study and clinical report of familial incidence.

P304

456-462

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P31

scholarly article

P356

10.1002/BDRA.23136

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P433

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

P478

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

P50

Lihadh Al-Gazali

Bassam R. Ali

P577

2013-05-20T00:00:00Z

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P5875

236930078

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P698

23696134

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A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

about

P2860

P2860

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698