Clinical Interpretation of a Novel AAGAB Splice-Site Variant (c.73+5G>A) of Uncertain Significance in a Clinically Typical Punctate Palmoplantar Epidermal Differentiation Disorder Phenotype.
Kinjo K, Minatogawa M, Asano Y
Journal of DermatologyIn the feed 15 Jul 2026, published online 14 Jul 2026, issue 2026 Sep, added to PubMed 15 Jul 2026
Topics: Genetic skin disease
Abstract
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PMID 42449505 · DOI 10.1111/1346-8138.70398