Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Gustavsson
P
P
Schoumans
J
J
Staaf
J
J
Jönsson
G
G
Carlsson
F
F
Kristoffersson
U
U
Borg
A
A
Nordenskjöld
M
M
Dahl
N
N
D000328:Adult; D001483:Base Sequence; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics*; D011486:Protein C / Q000235:genetics*; D017384:Sequence Deletion; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D020246:Venous Thrombosis / Q000175:diagnosis / Q000235:genetics*; D000075746:Zinc Finger Protein Gli2
C082593:GLI2 protein, human; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; D011486:Protein C; D000075746:Zinc Finger Protein Gli2; D013006:Growth Hormone