Progress in medical genetics: Map-based gene discovery and the molecular pathology of skeletal dysplasias

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 98-105

  McKusick, Victor A ^a,c   Amberger, Joanna S ^a   Francomano, Clair A ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DYSPLASIA; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FRAGILE X SYNDROME; GENE MAPPING; GENETIC ANALYSIS; HORMONE DEFICIENCY; HUMAN; MARKER GENE; MEDICAL GENETICS; PRIORITY JOURNAL; REVIEW;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; CLONING, MOLECULAR; COLLAGEN; GENETIC MARKERS; HUMANS; OSTEOCHONDRODYSPLASIAS;

EID: 0030004920     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<98::AID-AJMG19>3.0.CO;2-P     Document Type: Review

References (4)

1. Bergsma D, McKusick VA, Dorst JP, Scott CI (eds.) (1969): Skeletal Dysplasias. In Bergsma D (ed): "The First Conference on the Clinical Delineation of Birth Defects." Baltimore: Williams and Wilkins for The National Foundation - March of Dimes, BD:OAS V(4):1-396.
2. Collins FS (1995): Positional cloning moves from perditional to traditional. Nature Genet 9:347-350.
3. International Working Group on Constitutional Diseases of Bone (1992): International classification of osteochondrodysplasias. Am J Med Genet 44:223-229.
4. McKusick VA (1994): "Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders" (11th edition). Baltimore: Johns Hopkins University Press.