Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA-Reference-Cited by-同舟云学术

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Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA

Published:2015-05 Issue:2 Volume:78 Page:156-158
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Akasaka Eijiro,Okawa Yuko,Nakano Hajime,Takiyoshi Noriko,Rokunohe Daiki,Toyomaki Yuka,Sawamura Daisuke.,Sueki Hirohiko

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

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

2. Nonsense mutation in AAGAB cause punctuate palmoplantar keratoderma type Buschke–Fischer–Brauer;Giehl;Am J Hum Genet,2012

3. Six mutations in AAGAB confirm its pathogenic role in Chinese punctuate palomoplantar keratoderma patients;Cui;J Invest Dermatol,2013

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

5. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family;Eytan;Clin Exp Dermatol,2014

Cited by 7 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. 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;The Journal of Dermatology;2021-09-17

2. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation;Journal of Dermatological Science;2017-10

3. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma;Clinical and Experimental Dermatology;2017-02-27

4. Etretinate;Reactions Weekly;2016-11

5. Punctate palmoplantar keratoderma type 1 with a novelAAGABframeshift mutation: intrafamilial phenotype variation due to ageing;Journal of the European Academy of Dermatology and Venereology;2016-09-12

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