Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
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
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.
Zamiri M et al.
The British Journal of Dermatology, 2019
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
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
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
Eytan O et al.
Clinical and Experimental Dermatology, 2014
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