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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
Copy number variation goes clinical.
Le Caignec C, Redon R. Le Caignec C, et al. Genome Biol. 2009;10(1):301. doi: 10.1186/gb-2009-10-1-301. Epub 2009 Jan 23. Genome Biol. 2009. PMID: 19216730 Free PMC article.
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Isidor B, et al. Among authors: le caignec c. Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602915 Free PMC article.
162 results