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
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
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M et al.
The Journal of Investigative Dermatology, 2014
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
Pöhler E et al.
The Journal of Investigative Dermatology, 2013
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H 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
23064416 (PubMed )
Supplement: NIHMS50035-supplement-1.pdf
Select a paper to view details