Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma-Reference-Cited by-同舟云学术

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Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

Published:2017-02-27 Issue:3 Volume:42 Page:316-319
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Dinani N.¹,Ali M.¹,Liu L.²,McGrath J.³,Mellerio J.²

Affiliation:

1. Department of Dermatology; Worthing Hospital; Western Hospitals NHS Trust; Worthing West Sussex UK

2. St John's Institute of Dermatology; Guy's and St Thomas’ NHS Foundation Trust; London UK

3. Genetic Skin Disease Group; King's College London (Guy's Campus); London UK

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13049/fullpdf

Reference10 articles.

1. 47 individuals in 14 families with the rare genodermatosis keratosis puncatata palmoplantaris Buschke-Fischer-Brauer;Emmert;Eur J Dermatol,2003

2. Identification of a locus for type 1 punctate palmoplantar keratoderma on chromosome 15q22-q24;Martinez-Mir;J Med Genet,2003

3. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer;Giehl;Am J Hum Genet,2012

4. Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signalling;Pohler;J Invest Dermatol,2013

5. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma;Pohler;Nat Genet,2012

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spiny papules on the soles: More than viral warts?;Medical Reports;2024-06

2. AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer;Journal of Cutaneous Medicine and Surgery;2019-09-16

3. Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain;Scientific Reports;2019-03-14

4. Weitere Verhornungsstörungen;Braun-Falco’s Dermatologie, Venerologie und Allergologie;2018

5. Weitere Verhornungsstörungen;Braun-Falco's Dermatologie, Venerologie und Allergologie;2017-11-11

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