Robinow-Sorauf Syndrome (RSS)

Alias:
Craniosynostosis-Bifid Hallux Syndrome
Acrocephalosyndactyly, Robinow-Sorauf Type
Acrocephalosyndactyly Robinow-Sorauf Type
Robinow Sorauf Syndrome
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
罗宾诺-索拉夫综合症,又称颅缝早闭-双趾症,与萨瑟-肖特赞综合症和颅缝早闭有关。罗宾诺-索拉夫综合症相关的重要基因是TWIST1(扭曲家族BHLH转录因子1)。相关表型是下斜眼裂和宽趾症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
13
6

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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