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Compound heterozygous female with fragile X syndrome.
Linden MG, Tassone F, Gane LW, Hills JL, Hagerman RJ, Taylor AK. Linden MG, et al. Among authors: hagerman rj. Am J Med Genet. 1999 Apr 2;83(4):318-21. Am J Med Genet. 1999. PMID: 10208169
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.
Freedenberg DL, Gane LW, Richards CS, Lampe M, Hills J, O'Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman RJ, Patil SR. Freedenberg DL, et al. Among authors: hagerman rj. Am J Med Genet. 1999 Jul 30;85(3):197-201. doi: 10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10398226
582 results