Associated Papers
Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Hasegawa A et al.
The Journal of Dermatology, 2021
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
Dinani N et al.
Clinical and Experimental Dermatology, 2017
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA et al.
Acta Dermato-venereologica, 2016
Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.
Nomura T et al.
The Journal of Dermatology, 2015
Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.
Akasaka E et al.
Journal of Dermatological Science, 2015
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