Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg20092.pdf
Reference31 articles.
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3. Kjaer KW, Hansen L, Schwabe GC et al: Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005; 42: 292–298.
4. Bernardini L, Palka C, Ceccarini C et al: Complex rearrangement of chromosome 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet 2008; 146A: 238–244.
5. de Mollerat XJ, Gurrieri F, Morgan CT et al: A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 2003; 12: 1959–1971.
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