Disease

KBG Syndrome

About the Disease
Kbg Syndrome, also known as macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to hypertelorism and 16q24.3 microdeletion syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 22q11.2 copy number variation syndrome. Affiliated tissues include bone, heart and kidney, and related phenotypes are scoliosis and short neck

Common Targets
AP4B1 | ACADS | SETD5 | ANKRD11 | SMARCB1 | MED12

疾病靶点研报
KBG Syndrome

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