Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

about

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

P2860

Q58801736-C1506244-DEE9-40A7-ACBB-D418D9882658

P2860

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Item

http://www.wikidata.org/entity/Q48273548

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

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@en

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@nl

type

Item

label

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@en

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@nl

prefLabel

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@en

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

@nl

P1476

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation

@en

P2093

Eiji Ehara

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

Naomichi Matsumoto

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

Noriko Miyake

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

P2860

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

De novo SOX11 mutations cause Coffin-Siris syndrome

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Cardiac outflow tract development relies on the complex function of Sox4 and Sox11 in multiple cell types.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

P304

105-107

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

P31

scholarly article

P356

10.1111/CGA.12242

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

P433

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

P478

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

P50

Yoshinori Tsurusaki

Nobuhiko Okamoto

P577

2017-10-06T00:00:00Z

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

P698

28787104

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

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

about

P2860

P2860

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698