Cockayne Syndrome (CS)

Cockayne Syndrome(来自ICD-11)
别称:
Cockayne's Syndrome
Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome
Cs
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Basic Information
Medical Symptom
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References Literature
Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome b and cockayne syndrome a. An important gene associated with Cockayne Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Sirolimus and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are abnormality of retinal pigmentation and growth delay
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相关ID:
MESH:D003057

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MALACARDS
AR
All ages
1-9/1000000
86
962
84

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