Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

about

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Item

http://www.wikidata.org/entity/Q40247847

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Sotos syndrome associated with ...... and exome-sequencing analysis.

@en

type

Item

label

Sotos syndrome associated with ...... and exome-sequencing analysis.

@en

prefLabel

Sotos syndrome associated with ...... and exome-sequencing analysis.

@en

P1476

Sotos syndrome associated with ...... and exome-sequencing analysis.

@en

P2093

Cherry Ann Sio

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

Eun Shin

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

Huijeong Jang

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

Hyejin Jang

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

Hyoung Doo Shin

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

Hyun Sub Cheong

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

Jeong-Hyun Kim

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

Kyuwhan Jung

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

Miok Yoon

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

P2860

FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

A clinical study of Sotos syndrome patients with review of the literature.

Genetic syndromes associated with overgrowth in childhood.

Sotos syndrome: a study of the diagnostic criteria and natural history.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Haploinsufficiency of NSD1 causes Sotos syndrome.

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease

Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway.

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

P2888

pr.2017.106

P304

87-92

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

P31

scholarly article

P356

10.1038/PR.2017.106

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

P407

English

P433

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

P478

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

P577

2017-04-11T00:00:00Z

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

P698

28399120

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