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American Journal of Medical Genetics|October 6, 1999
Mild autosomal dominant hypophosphatasia: in utero presentation in two familiesC A Moore, C J Curry, P S Henthorn, et al.Genomics|October 1, 1990
Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets familiesR V Thakker, K E Davies, A P Read, et al.The New England Journal of Medicine|July 18, 1985
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcificationW S Sly, M P Whyte, V Sundaram, et al.The Journal of Clinical Endocrinology and Metabolism|September 22, 2000
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindredS Mumm, P T Christie, P Finnegan, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 25, 2000
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossificationM C Eddy, S M Jan De Beur, S M Yandow, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 1, 1994
Mutation analysis of coding sequences for type I procollagen in individuals with low bone densityL D Spotila, A Colige, L Sereda, et al.The Journal of Clinical Investigation|December 1, 1995
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidismS H Pearce, D Trump, C Wooding, et al.Nature Genetics|December 30, 1999
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisA E Hughes, S H Ralston, J Marken, et al.Human Molecular Genetics|December 14, 2001
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel geneE Cleiren, O Bénichou, E Van Hul, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 5, 2000
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasiaK N Fedde, L Blair, J Silverstein, et al.Pageof 16