Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
作者信息
Benito-Sanz Sara, Gorbenko del Blanco Darya, Huber Celine, Thomas N Simon, Aza-Carmona Miriam, Bunyan David, Maloney Vivienne, Argente Jesús, Cormier-Daire Valérie, Campos-Barros Angel, Heath Karen E
出版信息
Am J Hum Genet. 2006 Aug;79(2):409-14; author reply 414. doi: 10.1086/506390.
Abstract
摘要
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本文引用的文献
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A second recombination hotspot associated with SHOX deletions.
Am J Hum Genet. 2006 Mar;78(3):523-5. doi: 10.1086/500958.
2
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15.
3
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.
4
Segmental duplications and copy-number variation in the human genome.
Am J Hum Genet. 2005 Jul;77(1):78-88. doi: 10.1086/431652. Epub 2005 May 25.
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