Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.

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Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13 Nazneen Rahman, Melanie Dunstan, M. Dawn Teare, Sandra Hanks, Jenny Douglas, Kim Coleman, William E. Bottomly, Mary E. Campbell, Britta Berglund, Magnus Nordenskjöld, Bengt Forssell, Nigel Burrows, Peter Lunt, Ian Young, Nigel Williams, Graham R. Bignell, P. Andrew Futreal, F. Michael Pope The American Journal of Human Genetics Volume 73, Issue 1, Pages 198-204 (July 2003) DOI: 10.1086/376416 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotypes for 17 markers from chromosome 12p13 in family A. Blackened symbol = affected with EDS-VIII. Unblackened symbol = unaffected individual. The black bar next to marker alleles indicates that the disease-segregating haplotype is present in affected individuals. Meiotic recombinants in individuals 3 and 18 define the minimal interval encompassing the EDS-VIII gene to the region between markers D12S314 and D12S1695. The American Journal of Human Genetics 2003 73, 198-204DOI: (10.1086/376416) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint LOD score at chromosome 12p13 in family A The American Journal of Human Genetics 2003 73, 198-204DOI: (10.1086/376416) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotypes for eight chromosome-12p13 markers in four additional pedigrees with EDS-VIII (families B, C, D, and E). The segregating 12p13 haplotypes in affected individuals are depicted by black and hatched bars next to marker alleles. Inferred haplotypes are in parentheses. The American Journal of Human Genetics 2003 73, 198-204DOI: (10.1086/376416) Copyright © 2003 The American Society of Human Genetics Terms and Conditions