Perching Syndrome (PERCHING)

Perching Syndrome(来自ICD-11)
别称:
Perching
Crisponi/cold-Induced Sweating Syndrome 3, Formerly
Crisponi/cold-Induced Sweating Syndrome 3
Ciss3, Formerly
Ciss3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Perching Syndrome, also known as perching, is related to klhl7-related bohring-opitz-like and crisponi/cold-induced sweating-like overlap syndrome and hydrocephalus, congenital, 1. An important gene associated with Perching Syndrome is KLHL7 (Kelch Like Family Member 7). Affiliated tissues include brain and bone, and related phenotypes are dysphagia and high palate
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基础信息

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参考文献
MALACARDS
AR
Unknown
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1
3
8

疾病表征

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靶点药物

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MGI
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