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The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).
Rowe PS, Goulding JN, Francis F, Oudet C, Econs MJ, Hanauer A, Lehrach H, Read AP, Mountford RC, Summerfield T, Weissenbach J, Fraser W, Drezner MK, Davies KE, O'Riordan JL. Rowe PS, et al. Among authors: weissenbach j. Hum Genet. 1996 Mar;97(3):345-52. doi: 10.1007/BF02185769. Hum Genet. 1996. PMID: 8786079
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.
van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM. van Herwerden L, et al. Among authors: weissenbach j. Am J Hum Genet. 1994 Apr;54(4):669-74. Am J Hum Genet. 1994. PMID: 8128964 Free PMC article.
The gene for Darier's disease maps between D12S78 and D12S79.
Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. Parfitt E, et al. Among authors: weissenbach j. Hum Mol Genet. 1994 Jan;3(1):35-8. doi: 10.1093/hmg/3.1.35. Hum Mol Genet. 1994. PMID: 7512859
505 results