Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

American Journal of Medical Genetics

Volumn 95, Issue 5, 2000, Pages 482-491

  Iughetti, Paula ^a   Alonso, Luis Garcia ^b   Wilcox, William ^c,d   Alonso, Nivaldo ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Craniodiaphyseal dysplasia; Craniometaphyseal dysplasia; Genetic heterogeneity; Hyperostosis; Linkage analysis; Sclerosis; Spondylocostal dysostosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CHILD; CHROMOSOME 19Q; CHROMOSOME 6Q; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; JARCHO LEVIN SYNDROME; MALE; METAPHYSIS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; BONE AND BONES; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 6; COLLAGEN; COLLAGEN TYPE I; CRANIOFACIAL ABNORMALITIES; DNA; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE;

EID: 0034684730     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001218)95:5<482::AID-AJMG14>3.0.CO;2-X     Document Type: Article

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