Article

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with Cutis Laxa

2022-11-17

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> 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. <bold>Methods:</bold> In this study, we reported a case of a H...

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Identifiers and source

Literature Corpus work: 901752c6-ff4f-54a3-9f1a-ae66f305da15
DOI: 10.21203/rs.3.rs-1912665/v2

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