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Teresa Rudkin, M. D.; Nicholas Ah Mew, M. D. « 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.