Disease

Chromosome 17q21.31 Deletion Syndrome

About the Disease
Koolen-De Vries Syndrome, also known as kdvs, is related to koolen-de vries syndrome due to a point mutation and hypotonia, and has symptoms including dry skin An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1), and among its related pathways/superpathways is Chromatin organization. Affiliated tissues include heart, testes and bone, and related phenotypes are intellectual disability and ptosis

Common Targets
KANSL1 | YY1 | HNF1B

疾病靶点研报
Chromosome 17q21.31 Deletion Syndrome

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