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American Journal of Medical Genetics|September 1, 1982
AtelosteogenesisP Maroteaux, J Spranger, V Stanescu, et al.The EMBO Journal|July 1, 1985
Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfectaA F Grobler-Rabie, G Wallis, D K Brebner, et al.Clinical Dysmorphology|July 19, 2003
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combinationE M Honey, M van Rensburg, D P Knoll, et al.Clinical Genetics|June 14, 2000
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mappingP Ianakiev, M W Kilpatrick, M J Daly, et al.Journal of Medical Genetics|August 1, 1989
Evidence for genetic heterogeneity in tuberous sclerosisJ R Sampson, J R Yates, L A Pirrit, et al.The British Journal of Dermatology|October 13, 2006
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?N P Khumalo, K Pillay, P Beighton, et al.Head & Face Medicine|December 30, 2015
CANDLE Syndrome: orodfacial manifestations and dental implicationsT Roberts, L Stephen, C Scott, et al.South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|August 1, 1996
Mseleni joint disease--a molecular genetic approach to defining the aetiologyR Ballo, D Viljoen, M Machado, et al.Human Molecular Genetics|August 1, 1995
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17qS Bardien, N Ebenezer, J Greenberg, et al.American Journal of Human Genetics|February 1, 1990
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2B Sykes, D Ogilvie, P Wordsworth, et al.Pageof 23