Unexpected phenotype in a boy with trisomy of the SHOX gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 23, Issue 1-2, 2010, Pages 159-169

  Iughetti, Lorenzo ^a,b   Capone, Lucia ^a,c   Elsedfy, Heba ^b   Bertorelli, Roberto ^a   Predieri, Barbara ^a   Bruzzi, Patrizia ^a   Forabosco, Antonino ^a   Kholy, Mohamed El ^c  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b Genomic Research Center   (Italy)

^c AIN SHAMS UNIVERSITY   (Egypt)

Author keywords

Growth; Short stature; Shox gene; Trisomy

Indexed keywords

ENDOMYSIUM ANTIBODY; GROWTH HORMONE; HOX PROTEIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE ANTIBODY; PROTEINASE ACTIVATED RECEPTOR 1; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; THYROTROPIN;

ADOLESCENT; ARTICLE; BONE AGE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; DNA EXTRACTION; ENHANCER REGION; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE ACTIVATION; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE INSERTION; GENE LOCUS; GROWTH HORMONE BLOOD LEVEL; HETEROZYGOSITY; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; MALE; MICROSATELLITE MARKER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PROMOTER REGION; SHORT STATURE; THYROTROPIN BLOOD LEVEL; TRISOMY;

EID: 77950807881     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2010.23.1-2.159     Document Type: Article

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