Publications by authors named "Christine Michel-Adde"
Am J Med Genet A
May 2005
Article Synopsis
- Holt-Oram syndrome is a genetic disorder characterized by radial limb defects (like triphalangeal thumbs) and septal heart defects, caused by mutations in the TBX5 gene on chromosome 12.
- The syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene from a parent can cause the condition.
- A recent case identified a deletion on chromosome 14 in a boy with severe limb and heart issues, suggesting a potential new genetic location associated with Holt-Oram syndrome.
