Focal Dermal Hypoplasia

About the Disease
Focal Dermal Hypoplasia, also known as goltz syndrome, is related to chromosome 2q35 duplication syndrome and colobomatous microphthalmia. An important gene associated with Focal Dermal Hypoplasia is PORCN (Porcupine O-Acyltransferase), and among its related pathways/superpathways are Signal Transduction and Class A/1 (Rhodopsin-like receptors). Affiliated tissues include skin, eye and retina, and related phenotypes are hearing impairment and abnormality of the nail

Common Targets
SLC38A8 | PORCN

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