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Article

A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica - 1 Mar 2021

Gómez-García Ana C, Salas-Alanís Julio C, Bar-Fernandez Nathaly, Mendoza-Meza Rossana, Díaz-Montes Stephane M, Fajardo-Ramírez Oscar R

Abstract excerpt

Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms and soles was diagnosed with BFB keratoderma. After sequencing of...

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PMID: 33765759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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