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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in the TTN gene were identified in a female, age 15 with features of Multiple pterygium syndrome, Escobar type (read full description).
Aug 19, 2021
The TTN gene encodes for titin or connectin protein, which is expressed in the cardiac and skeletal muscles and is involved in muscle assembly, force transmission, and maintenance of resting tension (Itoh-Satoh et al., 2002).
Changes in this gene were identified in a UDN participant.
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