Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

about

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

P2860

Q52691549-D7343B9A-9007-4FE8-A4FE-438140A20091

P2860

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Item

http://www.wikidata.org/entity/Q53297214

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

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

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@en

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@nl

type

Item

label

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@en

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@nl

prefLabel

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@en

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@nl

P1476

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

@en

P2093

Andrea Superti-Furga

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

Axel Bohring

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

Chong A Kim

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

Christa M de Geus

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

Dagmar Wieczorek

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

David Sillence

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

Debora Bertola

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

Elaine Fletcher

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

Emma M Wade

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

Erin Carter

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

P2860

Haploinsufficiency of TAB2 causes congenital heart defects in humans

TAK1-dependent signaling requires functional interaction with TAB2/TAB3

The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

TAB2 is essential for prevention of apoptosis in fetal liver but not for interleukin-1 signaling

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

Fetal phenotypes in otopalatodigital spectrum disorders.

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

P304

1739-1746

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

P31

scholarly article

P356

10.1002/AJMG.A.38267

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

P407

English

P433

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

P478

173

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

P50

Stephen Robertson

David Markie

Deborah Krakow

P577

2017-05-12T00:00:00Z

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

P698

28498505

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

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

about

P2860

P2860

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698