Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03078.x/fullpdf
Reference11 articles.
1. Diploid/triploid mixoploidy and hypomelanosis of Ito;Donnai;Lancet,1986
2. Pigmentary dysplasia, hypomelanosis of Ito, and genetic mosaicism;Flannery;Am. J. Med. Genet.,1990
3. Genomic imprinting: review and relevance to human diseases;Hall;Am. J. Hum. Genet.,1990
4. Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities;Newton;Clin. Genet.,1972
5. Chromosome mosaicism in hypomelanosis of Ito;Ritter;Am. J. Med. Genet.,1990
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