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About the study

Advances in genetics have greatly increased our understanding of how DNA mutations can lead to isolated limb malformations—limb malformations that occur separately from any other clinical problems. Many studies suggest that mutations responsible for isolated limb malformations can occur in regions that regulate genes that are important for limb development. These regions are called enhancers, and they activate genes at the right time and place. If there is a mutation in the enhancer, the gene is not “turned on” properly. Our research focuses on identifying enhancers that are important for limb development and identifying mutations in these enhancers that could be responsible for isolated limb malformations.

Participation in our study involves:

  • A brief, informed consent interview in person or over the phone.
  • A short questionnaire.
  • A DNA sample collected from either saliva or blood. Collection of saliva for a DNA sample is easy and painless and can be done in your home. You do not need to travel to UC San Francisco. You return the saliva container to us in a prepaid envelope.

Patient privacy is very important to us. All information and samples are confidential. Details: FAQ.