2022
DOI: 10.21203/rs.3.rs-1912665/v2
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Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with Cutis Laxa

Abstract: Background: Cutis laxa is a connective tissue disease caused by abnormal synthesis or secretion of skin elastic fibers, leading to skin flabby and sagging in various body parts. It can be divided into congenital cutis laxa and acquired cutis laxa, and inherited cutis laxa syndromes is more common in clinic. Methods: In this study, we reported a case of a Han-Chinese male newborn with ATP6V0A2 gene variant leading to cutis laxa. The proband was identified by whole-exome sequencing to determine the novel variant… Show more

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