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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: neri g. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
An additional patient with the 3C syndrome.
Gurrieri F, Neri G. Gurrieri F, et al. Among authors: neri g. Clin Genet. 1992 May;41(5):263-5. doi: 10.1111/j.1399-0004.1992.tb03678.x. Clin Genet. 1992. PMID: 1606716
XLMR genes: update 1990.
Neri G, Gurrieri F, Gal A, Lubs HA. Neri G, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):186-9. doi: 10.1002/ajmg.1320380204. Am J Med Genet. 1991. PMID: 2018056
A girl with the Lujan-Fryns syndrome.
Gurrieri F, Neri G. Gurrieri F, et al. Among authors: neri g. Am J Med Genet. 1991 Feb-Mar;38(2-3):290-1. doi: 10.1002/ajmg.1320380225. Am J Med Genet. 1991. PMID: 2018074 No abstract available.
912 results