An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female

American Journal of Medical Genetics

Volumn 113, Issue 3, 2002, Pages 279-285

  Shago, Mary ^a   Sgro, Michael ^b   Barozzino, Tony ^b   Antinucci, Daniel ^a   Chakraborty, Pranesh ^a   Chitayat, David ^a   Teshima, Ikuko ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

Ring X; SHOX gene; X chromosome; X inactivation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CONGENITAL MALFORMATION; CORRELATION ANALYSIS; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HAPLOTYPE; HUMAN; INFANT; LIMB DEFECT; LYMPHOCYTE; METAPHASE CHROMOSOME; PRIORITY JOURNAL; RIEGER SYNDROME; RING CHROMOSOME; SHORT STATURE; SHOX GENE; SRY GENE; X CHROMOSOME ABERRATION; Y CHROMOSOME; CHROMOSOME BANDING PATTERN; GENETICS; KARYOTYPING; METABOLISM; MULTIPLE MALFORMATION SYNDROME; NEWBORN; X CHROMOSOME;

HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, X; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; RING CHROMOSOMES;

EID: 0036888871     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10789     Document Type: Article

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