Brachydactyly scoliosis carpal fusion
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- Support Groups (Found: 4 Resources)
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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- Clinical Trials & Research (Found: 1 Resource)
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The University of California, San Francisco (UCSF) is conducting studies on isolated/non-syndromic limb malformations (syndactyly, polydactyly, split hand and foot, reduction anomalies, brachydactlyly, clinodactyly, arachnodactyly, camptodactyly, etc.). They are looking to identify DNA samples of patients, both familial and sporadic, with isolated limb malformations.
DNA of these patients will be screened in order to discover novel mutations leading to isolated limb malformations. If clinically significant variants are discovered, the researchers will notify the referring clinician. The research lab is not CLIA-certified, so confirmation in a CLIA-certified lab will be needed.
Please contact the principal investigator, Dr. Nadav Ahituv, Institute for Human Genetics, UCSF (nadav.ahituv@ucsf.edu, phone: 415 476 1838) for further details.
University of California, San Francisco (USCF)
Institute for Human Genetics
Dr. Nadav Ahituv
nadav.ahituv@ucsf.edu
phone: 415-476 1838
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.