Article

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome

2024-06-10

Abstract excerpt

<title>Abstract</title> <p>Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in <italic>Kallikrein-15</italic> (KLK15 p. Gly226Asp<italic>)</italic>,<italic> </italic>segregated with dise...

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Literature Corpus work: a6f0e471-5650-549f-8de0-d9d09bdf1f65
DOI: 10.21203/rs.3.rs-4547888/v1

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