A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

American Journal of Medical Genetics

Volumn 110, Issue 2, 2002, Pages 144-152

  Staehling Hampton, Karen ^a   Proll, Sean ^a   Paeper, Bryan W ^a   Zhao, Lei ^a   Charmley, Patrick ^a   Brown, Analisa ^a   Gardner, Jessica C ^b   Galas, David ^a,e   Schatzman, Randall C ^a   Beighton, Peter ^b   Papapoulos, Socrates ^c   Hamersma, Herman ^d   Brunkow, Mary E ^a  

^a Celltech R and D Inc   (United States)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Otolaryngologist ^*  (South Africa)

^e KECK GRADUATE INSTITUTE   (United States)

Author keywords

Chromosomal deletion; Endosteal hyperostoses; MEOX1 U10492; Sclerosteosis; SOST AF326739; Van Buchem disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHROMOSOME 17Q; CHROMOSOME DELETION; CLINICAL ARTICLE; DNA FLANKING REGION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HYPEROSTOSIS; OSTEOSCLEROSIS; PRIORITY JOURNAL; VAN BUCHEM DISEASE;

AFRICA; BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DNA, INTERGENIC; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; NETHERLANDS; OSTEOCHONDRODYSPLASIAS; OSTEOSCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 18444400214     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10401     Document Type: Article

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