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Ichthyosis, DSP-related

Häfliger et al. (2022) report a Scottish Highland calf with "combined lesions compatible with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects associated with a DSP missense variant as the most likely underlying cause."

OMIA ID: 2243Inheritance: 5Characterised: YesYear: 2022