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ENSpondylometaphyseal Dysplasia, Kozlowski Type (SMDK)
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Spondylometaphyseal Dysplasia Kozlowski Type
Jequier Kozlowski Skeletal Dysplasia
Smd Kozlowski Type
Smdk
Dysmorphism Arthrogryposis Skeletal Maturation Advanced
Skeletal Dysplasia Jequier-Kozlowski Type
Jequier-Kozlowski Syndrome
Smd, Kozlowski Type
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Spondylometaphyseal Dysplasia, Kozlowski Type, also known as spondylometaphyseal dysplasia kozlowski type, is related to hereditary motor and sensory neuropathy, type iic and brachyolmia. An important gene associated with Spondylometaphyseal Dysplasia, Kozlowski Type is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Ion channel transport and L1CAM interactions. Affiliated tissues include bone, and related phenotypes are disproportionate short-trunk short stature and growth delay
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