Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer

American Journal of Medical Genetics

Volumn 137 A, Issue 1, 2005, Pages 72-76

  Fukami, Maki ^a   Okuyama, Torayuki ^b   Yamamori, Shunji ^c   Nishimura, Gen ^d   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c LSI MEDIENCE CORPORATION   (Japan)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

3 deletion; Enhancer; Langer mesomelic dysplasia; Leri Weill dyschondrosteosis; SHOX

Indexed keywords

ADULT; AGED; ARTICLE; BONE DISEASE; CLINICAL ARTICLE; DYSCHONDROSTEOSIS; DYSPLASIA; ENHANCER REGION; FEMALE; GENE DELETION; HUMAN; HYPOPLASIA; INFANT; JAPAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; LANGER MESOMELIC DYSPLASIA; MALE; MICROGNATHIA; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; ULNA; ZYGOSITY;

3' FLANKING REGION; ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FAMILY HEALTH; FEMALE; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MICROGNATHISM; MICROSATELLITE REPEATS; MOTHERS; MUSCULOSKELETAL ABNORMALITIES; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RING CHROMOSOMES; TRANSCRIPTION FACTORS;

EID: 23344443566     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30852     Document Type: Article

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