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Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
Am J Med Genet. 1993 Sep 15;47(4):504-11. doi: 10.1002/ajmg.1320470414.
Am J Med Genet. 1993.
PMID: 8256814
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR.
Wise CA, et al. Among authors: heju z.
Am J Hum Genet. 1993 Oct;53(4):853-63.
Am J Hum Genet. 1993.
PMID: 8105684
Free PMC article.
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