AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer
Author:
Affiliation:
1. Division of Clinical Dermatology and Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, NS, Canada
2. Division of Dermatology, Department of Medicine, University of Saskatchewan, Saskatoon, SK, Canada
Abstract
Funder
canadian dermatology foundation
Publisher
SAGE Publications
Subject
Dermatology,Surgery
Link
http://journals.sagepub.com/doi/pdf/10.1177/1203475419878161
Reference22 articles.
1. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
2. Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
3. Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences
4. Punctate palmoplantar keratoderma type 1 with a novelAAGABframeshift mutation: intrafamilial phenotype variation due to ageing
5. Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability
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1. Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature;Orphanet Journal of Rare Diseases;2023-09-13
2. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03
3. Disorders of Keratinization;Braun-Falco´s Dermatology;2022
4. sQuiz your Knowledge! Long-standing multiple painful keratotic papules on the palms and soles;European Journal of Dermatology;2021-12
5. AAGAB is an assembly chaperone regulating AP1 and AP2 clathrin adaptors;Journal of Cell Science;2021-10-01
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