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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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
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
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
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