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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: antonarakis se. Am J Med Genet. 1992 Jan 1;42(1):127-34. doi: 10.1002/ajmg.1320420126. Am J Med Genet. 1992. PMID: 1308352
Molecular genetic analysis in autosomal dominant keratoconus.
Rabinowitz YS, Maumenee IH, Lundergan MK, Puffenberger E, Zhu D, Antonarakis S, Francomano CA. Rabinowitz YS, et al. Cornea. 1992 Jul;11(4):302-8. doi: 10.1097/00003226-199207000-00005. Cornea. 1992. PMID: 1358551
677 results