Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis

Journal of Bone and Mineral Research

Volumn 15, Issue 10, 2000, Pages 1900-1904

  Benichou O D ^a   Benichou B ^a   Copin, H ^a   De Vernejoul, M C ^a   Van Hul, W ^b  

^a HÔPITAL LARIBOISIÈRE   (France)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Albers Schonberg disease; Genetics; Linkage study; Osteopetrosis; Type II autosomal dominant osteopetrosis

Indexed keywords

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MASS; CHROMOSOME 1P; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRACTURE; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; MALE; PHENOTYPE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; FRANCE; GENE FREQUENCY; GENES, DOMINANT; GENETIC HETEROGENEITY; HAPLOTYPES; HUMAN; LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; OSTEOPETROSIS; PEDIGREE; PHENOTYPE; SUPPORT, NON-U.S. GOV'T;

EID: 0033819751     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.10.1900     Document Type: Article

References (21)

1. Rontgenbilder einer seltenen Knochenerkrankung
2. Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects
3. Osteopetrosis. A genetic and epidemiological study
4. Osteopetrosis: Review of dominant cases and frequency in a Brazilian state
5. Heterogeneity of autosomal dominant osteopetrosis
6. Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
7. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): Clinical and radiological manifestations in 42 patients
8. Localization of a gene for autosomal dominant osteopetrosis (Albers Schonberg disease) to chromosome 1p21
9. Evidence for genetic heterogeneity in Albers Schonberg osteopetrosis (type II autosomal dominant osteopetrosis)
10. Locus heterogeneity of autosomal dominant osteopetrosis (ADO)
11. A comprehensive genetic map of the human genome based on 5,264 microsatellites
12. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
13. Easy calculations of lod scores and genetic risks on small computers
14. Clinical, radiological, and genetic features of a new type of human dominant osteopetrosis
15. Autosomal dominant osteopetrosis: Report of a Norwegian family with radiographic or anamnestic findings differing from the generally accepted classification
16. Recent developments in the understanding of the pathophysiology of osteopetrosis
17. Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis
18. Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis
19. Osteoprotegerin: A novel secreted protein involved in the regulation of bone density
20. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
21. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice