WP5367 - Rubinstein-Taybi syndrome 1 - Homo sapiens

NIAID Data Ecosystem2026-05-02 收录

Rubinstein-Taybi综合征

致病基因突变分析

数据链接：

https://www.ndexbio.org/viewer/networks/efe40f55-1438-11f0-9806-005056ae3c32 数据链接链接失效反馈

官方服务：

资源简介：

Rubinstein-Taybi syndrome is a rare disease caused by a pathogenic version of the CREBBP and/or EP300 genes.

创建时间：

2025-04-17

Supplementary Material for: A heterozygous variant of FGF13 caused X-linked developmental and epileptic encephalopathy 90 in a Chinese family

遗传性癫痫脑病

致病基因突变分析

Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and

NIAID Data Ecosystem100

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

致病基因突变分析

基因型-表型关联

Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort

NIAID Data Ecosystem40

Factors associated with increased odds of harboring a pathogenic mutation (N = 460).

致病基因突变分析

风险因素

Factors associated with increased odds of harboring a pathogenic mutation (N = 460).

NIAID Data Ecosystem30

DataSheet1_Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review.xls

致病基因突变分析

Mowat-Wilson综合征临床研究

Background:ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome (MWS), which is characterized by distinctive facial features, global developmental delay, intellectual disability, epilepsy, fri

NIAID Data Ecosystem60

CO2-dependent small-colony variant Staphylococcus aureus: SCV-5700 Genome sequencing and assembly

细菌表型变异机制

致病基因突变分析

Identification of genomic mutation causing CO2-dependent small-colony variant Staphylococcus aureus: SCV-5700

NIAID Data Ecosystem40