Disease

Saethre-Chotzen Syndrome

About the Disease
Saethre-Chotzen Syndrome, also known as acs3, is related to hemifacial hyperplasia and chromosome 2q35 duplication syndrome. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are PAK Pathway and Signaling by Receptor Tyrosine Kinases. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include skull, bone and eye, and related phenotypes are clinodactyly of the 5th finger and facial asymmetry

Common Targets
TWIST1 | FGFR2

疾病靶点研报
Saethre-Chotzen Syndrome

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