Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1407-1414

  Thomas, N Simon ^a,b   Harvey, John F ^a   Bunyan, David J ^a   Rankin, Julia ^c   Grigelioniene, Giedre ^d   Bruno, Damien L ^e,f   Tan, Tiong Y ^f   Tomkins, Susan ^g   Hastings, Robert ^g  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g ST MICHAEL'S HOSPITAL   (United Kingdom)

Author keywords

Flanking sequence; Long range transcriptional enhancers; SHOX deletion; SHOX duplication; Tall stature

Indexed keywords

MICROSATELLITE DNA;

ADOLESCENT; AGED; ARTICLE; ASPERGER SYNDROME; BODY HEIGHT; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL EXAMINATION; CYTOGENETICS; DNA FLANKING REGION; DNA SEQUENCE; DYSCHONDROSTEOSIS; DYSPRAXIA; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEARING LOSS; HUMAN; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; SHORT STATURE; SHOX GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DEVELOPMENT; X CHROMOSOME; X RAY FILM;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BODY HEIGHT; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENE DUPLICATION; GENETIC HETEROGENEITY; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE;

EID: 67649869569     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32914     Document Type: Article

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