Publications - Laron Syndrome

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A C>T transition in the growth hormone receptor results in aberrant mRNA processing in a Bahamian genetic isolate of Laron syndrome. Baumbach, L., Schiavi, A., Bartlett, R., Brown, M., Parks, J., Eidson, M. and Cleveland, W. SSPR Young Invest. Competition/Soc. Inherited Metabolic Diseases, 1995. [abstract] 

Clinical, biochemical, and molecular investigations of growth hormone insensitivity (Laron's syndrome). Baumbach, L., Schiavi, A., Bartlett, R., Perera, E., Day, J., Brown, M., Stein, S., Eidson, M., Parks, J. and Cleveland, W. J.Clin. Endo. Metab. 82:444-451, 1997. [paper] 

Preferential transcription from an activated cryptic splice site results in aberrant mRNA processing and protein truncation in a Bahamian genetic isolate of Laron syndrome. Schiavi, A., Bartlett, R., Brown, M., Stein, S., Eidson, M., Parks, J., Cleveland, W. and Baumbach, L. ASHG, 1995. [abstract]