B. Loeys

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 (2005)

Loeys, B, Chen, J, Neptune, E, Judge, D, Podowski, M, Holm, T, ...

We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes...