Waardenburg Syndrome

Waardenburg Syndrome(来自ICD-11)
别称:
Waardenburg's Syndrome
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome
Waardenburg, Types I and/or Ii
Waardenburg Syndrome, Type 4a
Waardenburg Shah Syndrome
Waardenburgs Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Waardenburg Syndrome, also known as waardenburg's syndrome, is related to waardenburg syndrome, type 3 and waardenburg syndrome, type 4c. An important gene associated with Waardenburg Syndrome is PAX3 (Paired Box 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and abnormal facial shape
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相关ID:
MESH:D014849

基础信息

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参考文献
MALACARDS
--
Unknown
1-9/1000000
34
1022
22

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