Carpenter Syndrome
Carpenter Syndrome
About the Disease
Carpenter Syndrome 1, also known as carpenter syndrome, is related to chromosome 2q35 duplication syndrome and polydactyly. An important gene associated with Carpenter Syndrome 1 is RAB23 (RAB23, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include heart, bone and testes, and related phenotypes are brachydactyly and finger syndactyly
Common Targets
SEC24D | MEGF8 | RAB23
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