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American Journal of Medical Genetics

Volumn 98, Issue 2, 2001, Pages 176-181

Genetic study of SOX9 in a case of campomelic dysplasia

(4) Giordano, Jennifer a,b Prior, Heather M a Bamforth, J Stephen a Walter, Michael A a

a UNIVERSITY OF ALBERTA (Canada)

b Weill Cornell Graduate School of Biomedical Sciences (United States)

Author keywords

Campomelic dysplasia; Genotype phenotype correlation; SOX9

Indexed keywords

GUANINE; HIGH MOBILITY GROUP PROTEIN; NUCLEOTIDE; TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CASE REPORT; CHONDROGENESIS; DEVELOPMENTAL DISORDER; DNA POLYMORPHISM; FEMALE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENITAL MALFORMATION; HUMAN; INFANT; KARYOTYPE 46,XY; LIFE EXPECTANCY; MULTIGENE FAMILY; NEWBORN DEATH; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEX DETERMINATION; SEX TRANSFORMATION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETON MALFORMATION; TRANSACTIVATION;

ADULT; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENOTYPE; GONADAL DYSGENESIS, 46,XY; HAND DEFORMITIES; HIGH MOBILITY GROUP PROTEINS; HIP; HUMANS; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS;

EID: 0035863596 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20010115)98:2<176::AID-AJMG1027>3.0.CO;2-Q Document Type: Article

Times cited : (36)

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