Author:
Leung Megumi,Sanchez-Castillo Meredith,Belnap Newell,Naymik Marcus,Bonfitto Anna,Sloan Jennifer,Hassett Katie,Jepsen Wayne M.,Sankaramoorthy Aravind,Stewart Tracy Murray,Foley Jackson R.,Rangasamy Sampathkumar,Huentelman Matthew J.,Narayanan Vinodh,Ramsey Keri
Funder
Translational Genomics Research Institute
Reference13 articles.
1. Schwartz, C.E., Peron, A., & Kutler, M.J. (2013). Snyder-Robinson Syndrome. In M.P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
2. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype;Peron;Am. J. Med. Genet. Part A,2013
3. PMON20 Snyder Robinson syndrome: a rare syndrome;Manas;J. Endocr. Soc.,2022
4. Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta;Valera Ribera;Osteoporos. Int.: J. Establ. Result Coop. Eur. Found. Osteoporos. Natl. Osteoporos. Found. USA,2022
5. The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome;Larcher;Eur. J. Med. Genet.,2020
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