Chromosome 17p13.3, Centromeric, Duplication Syndrome

Alias:

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

17p13.3 Duplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(p13.3)

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 17p13.3, Centromeric, Duplication Syndrome, also known as chromosome 17p13.3 duplication syndrome, is related to pachygyria and lissencephaly, x-linked, 1. An important gene associated with Chromosome 17p13.3, Centromeric, Duplication Syndrome is DUP17P13.3 (Chromosome 17p13.3 Duplication Syndrome), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include heart and brain, and related phenotypes are frontal bossing and hypotonia

Related ID：

MALACARDS：CHR589

OMIM：613215

MESH：C567705