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Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-06-14 , DOI: 10.1002/mgg3.1347 Neng Yang 1, 2 , Yongyi Ma 2 , Hong Yao 2 , Qing Chang 2 , Victor Zhang 3, 4 , Zhiqing Liang 2 , Xiongwei Cai 2
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-06-14 , DOI: 10.1002/mgg3.1347 Neng Yang 1, 2 , Yongyi Ma 2 , Hong Yao 2 , Qing Chang 2 , Victor Zhang 3, 4 , Zhiqing Liang 2 , Xiongwei Cai 2
Affiliation
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Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function mutation in the gene encoding type VII collagen (COL7A1). This study aimed to identify the causative variants of a Chinese RDEB patient and further provide prenatal diagnosis for the ongoing risk pregnancy of the proband's mother.
更新日期：2020-08-19
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