Medical Genetics Journal Club

Presenters: Teresa Rudkin, MD. "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2." Reference: Loeys, B.L. et al. Nature Genetics 37(3): 275-281, 2005. M. Nicholas Ah Mew, MD. "Population-based study of the outcome following the prenatal diagnosis of cystic hygroma." Reference: Howarth, E.S., Kurinczuk, J.J. et al. Prenatal Diagnosis 25: 286-291, 2005.