Gary S. Gottesman

TL;DR: This study conducted a study in which MPS IVA patients were asked to fill out a questionnaire with inquiries regarding family history, diagnosis, signs and symptoms, height, weight, surgical history, physical activity, and general complaints to provide a reference for assessment of efficacy for studies of novel therapies.

TL;DR: The finding of a glycine substitution in an alpha 1(I) chain of a patient with the milder type IV osteogenesis imperfecta phenotype requires modification of current molecular models for types II and IV osteogenic imperfecta.

TL;DR: Evidence for extensive allelic heterogeneity of MPS IVA is provided and accumulation of mutations as well as clinical descriptions and KS levels allows us to predict clinical severity more precisely and should be used for evaluation of responses to potential treatment options.

TL;DR: The findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS, and the absence of early‐onset cataracts in this setting should suggest the diagnosis of progeroids laminopathy.

TL;DR: This strategy for detection and isolation has wide application not only for mutations causing connective tissue disorders, but also for mutations in other large and repetitive genes.