A second recombination hotspot associated with SHOX deletions
- PMID: 16572514
- PMCID: PMC1380296
- DOI: 10.1086/500958
A second recombination hotspot associated with SHOX deletions
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Comment in
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Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.
Comment on
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Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Am J Hum Genet. 2005 Jul;77(1):89-96. doi: 10.1086/431655. Epub 2005 Jun 1. Am J Hum Genet. 2005. PMID: 15931595 Free PMC article.
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Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.
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Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390. Am J Hum Genet. 2006. PMID: 16826534 Free PMC article. No abstract available.
References
Web Resources
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- GDB Human Genome Database, http://www.gdb.org/ (for microsatellite markers DXYS233 and DXYS234)
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- Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for LWD, SHOX, and idiopathic short stature)
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- UCSC Genome Browser, http://genome.ucsc.edu (for STS markers at the Human [Homo sapiens] Genome Browser Gateway)
References
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- Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19:67–69 - PubMed
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- Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54–6310.1038/ng0597-54 - DOI - PubMed
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