Campomelic Dysplasia

About the Disease
Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to campomelic dysplasia and related disorders and 46,xy sex reversal, and has symptoms including apnea and respiratory distress. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box Transcription Factor 9), and among its related pathways/superpathways are Endochondral ossification and Mesenchymal Stem Cells and Lineage-specific Markers. The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include tibia, femur and bone, and related phenotypes are macrocephaly and scoliosis

Common Targets
TBX4 | SOX9

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