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FERMT1-pEDD-KS

Previously: Kindler EB

pEDD Gene: FERMT1 AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Poikiloderma, photosensitivity, skin fragility, pseudosyndactyly.

Additional Cutaneous Features

Poikiloderma, photosensitivity, skin fragility, pseudosyndactyly

References

Siegel DH, Ashton GH, Penagos HG et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 73:174-87.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer