Literature DB >> 33569812

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

Xingyuan Jiang1, Weilong Zhong2, Bo Yu2, Zhimiao Lin1, Huijun Wang1.   

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Year:  2021        PMID： 33569812     DOI： 10.1111/ijd.15432

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


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  1 in total

1.  Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Authors:  Bo Liang; He Huang; Jiaxiang Zhang; Gang Chen; Xiangsheng Kong; Mengting Zhu; Peiguang Wang; Lili Tang
Journal:  Front Genet       Date:  2022-03-28       Impact factor: 4.599
  1 in total

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