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Cutaneous

Ichthyosis, congenital, autosomal recessive – ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 NIPAL4 TGM1

December 8, 2020

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis – CLDN1

December 8, 2020

Epidermolytic hyperkeratosis – KRT10

December 8, 2020

Cutis laxa, autosomal recessive – ALDH18A1 ATP6V0A2 EFEMP2 FBLN5 LTBP4 PYCR1 ALDH18A1

December 8, 2020

Ectodermal dysplasia, ectrodactyly and macular dystrophy – CDH3

December 8, 2020

Ectodermal dysplasia – EDA EDAR IKBKG KRT85

December 8, 2020

Xeroderma pigmentosum – ERCC2 ERCC4 ERCC5 XPA XPC

December 8, 2020

Kindler syndrome – FERMT1

December 8, 2020

Epidermolysis bullosa – COL7A1 COL17A1 DSP ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

December 8, 2020

Hyaline fibromatosis syndrome – ANTXR2

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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