Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.
other · Level V
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- Record sourced from PubMed, PMID 35199331.
- Also identified by DOI 10.1111/bjd.21064.
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Abstract
1. We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2. The recurrent variant c.970_971del, mainly prevalent in the East Asia population, was proved to be a founder variant. 3. Considerable SERPINA12-related palmoplantar keratoderma patients could be identified from autosomal recessive, non-mutilating, diffused palmoplantar keratoderma patients. 4. Other serpin family members or their co-effect may participate in the etiologies of underexplored hereditary palmoplantar keratodermas.
Medical subject headings
- Keratoderma, Palmoplantar
- Serpins