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Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Collins FA, et al. Among authors: murphy dl. Am J Med Genet. 1992 Jan 1;42(1):127-34. doi: 10.1002/ajmg.1320420126. Am J Med Genet. 1992. PMID: 1308352
Screen for MAOA mutations in target human groups.
Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP. Schuback DE, et al. Among authors: murphy dl. Am J Med Genet. 1999 Feb 5;88(1):25-8. Am J Med Genet. 1999. PMID: 10050962 Free PMC article.
893 results