Associated Papers
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB et al.
Clinical Genetics, 2024
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
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
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M et al.
The Journal of Investigative Dermatology, 2014
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H et al.
The Journal of Investigative Dermatology, 2013
Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2013
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E et al.
Nature Genetics, 2012
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Giehl KA et al.
American Journal of Human Genetics, 2012
AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
Elhaji Y et al.
Journal of Cutaneous Medicine and Surgery, 0
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