Article

Novel Pathogenic Mutations of FERMT1 in two Chinese Kindler Syndrome Families

2021-03-31

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Kindler syndrome (KNDLRS) is a very rare autosomal recessive disorder characterized by bullous poikiloderma with photosensitivity. Loss-of-function mutations in <italic>FERMT1</italic>, which located on chromosome 20p12.3, were responsible for KNDLRS. Numerous mutations in <italic>FERMT1</italic> have been reported to be associated with KNDLRS. <bold>Results:</b...

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Literature Corpus work: 48cb38b4-ef81-576c-adbc-e1b9b8ed88d7
DOI: 10.21203/rs.3.rs-354474/v1

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