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SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: lacombe d. J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. J Invest Dermatol. 2014. PMID: 23985994 Free article. No abstract available.
Obesity: a new feature of WAGR (del 11p) syndrome.
Marlin S, Couet D, Lacombe D, Cessans C, Bonneau D. Marlin S, et al. Among authors: lacombe d. Clin Dysmorphol. 1994 Jul;3(3):255-7. Clin Dysmorphol. 1994. PMID: 7526938
W syndrome: report of three cases and review.
Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: lacombe d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.
[Costello syndrome: clinical aspects and tumor risk].
Delrue MA, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: lacombe d. Arch Pediatr. 2002 Oct;9(10):1059-63. doi: 10.1016/s0929-693x(02)00058-1. Arch Pediatr. 2002. PMID: 12462839 Review. French.
Donnai-Barrow syndrome: four additional patients.
Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: lacombe d. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P. Boutet N, et al. Among authors: lacombe d. J Invest Dermatol. 2003 Sep;121(3):478-81. doi: 10.1046/j.1523-1747.2003.12423.x. J Invest Dermatol. 2003. PMID: 12925203 Free article.
665 results