Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

European Journal of Human Genetics

Volumn 10, Issue 1, 2002, Pages 44-51

  Tomkins, Darrell J ^a   McDonald, Helen L ^b   Farrell, Sandra A ^c   Brown, Carolyn J ^b  

^a UNIVERSITY OF ALBERTA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c CREDIT VALLEY HOSPITAL   (Canada)

Author keywords

Dosage compensation; Ring X; Turner syndrome; X chromosome inactivation; XIST

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; ALLELE; ARTICLE; BLOOD CELL; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME XP; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MARKER GENE; METHYLATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RELATIVE; RING CHROMOSOME; SHORT STATURE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; DWARFISM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; POINT MUTATION; PROMOTER REGIONS (GENETICS); RING CHROMOSOMES; RNA, UNTRANSLATED; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 85047695538     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200757     Document Type: Article

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