PNPLA1

Congenital ichthyosis

SKIN SCALES Recommended panel testing at Breda Genetics for this condition: Congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, ARCI7, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, ST14, SULT2B1, TGM1) Skin-only ichthyosis Congenital ichthyosis is a genetically heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body. These disorders are limited to skin

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