Camptodactyly, Tall Stature, and Hearing Loss Syndrome (CATSHLS)

Alias:
Catshl Syndrome
Catshls
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Camptodactyly, Tall Stature, and Hearing Loss Syndrome, also known as catshl syndrome, is related to camptodactyly-tall stature-scoliosis-hearing loss syndrome and scoliosis. An important gene associated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include brain and bone, and related phenotypes are scoliosis and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
30
5

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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