Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients-Reference-Cited by-同舟云学术

Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients

Published:2013-11 Issue:11 Volume:133 Page:2631-2634
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Cui Hongzhou,Gao Min,Wang Wenjun,Xiao Ruo,Chen Gang,Zhang Qing,Fu Hongyang,Zhou Yi,Guo Birong,Dong Ying,Shen Jie,Zhang Min,Yue Zhen,Liu Fengxia,Lin Da,Gao Tianwen,Zhang Anping,Zhou Wenming,Sun Liangdan,Yang Sen,Wang Jun,Cui Yong,Zhang Xuejun

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference13 articles.

1. Clinical and genetic characteristics of Buschke-Fischer-Brauer’s disease in a Tunisian family;El Amri;Ann Dermatol Venereol,2010

2. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31;Gao;Br J Dermatol,2005

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

4. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma;Guo;J Med Genet,2012

5. Exome sequencing: dual role as a discovery and diagnostic tool;Ku;Ann Neurol,2012

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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature;Orphanet Journal of Rare Diseases;2023-09-13

3. 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

4. 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

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