Kosaki Overgrowth Syndrome (KOGS)

Alias:
Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome
Skeletal Overgrowth with Facial Dysmorphism, Hyperelastic Skin, White Matter Lesions, and Neurologic Deterioration
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Kosaki Overgrowth Syndrome, also known as skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, is related to overgrowth syndrome and scoliosis. An important gene associated with Kosaki Overgrowth Syndrome is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include skin and bone, and related phenotypes are scoliosis and wide nasal bridge
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
33
12

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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