X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
Burkitt Wright
Emma M M
EM
University of Manchester and Central Manchester University Hospitals Foundation Trust, St Mary's Hospital, UK.
Perveen
Rahat
R
Clayton
Peter E
PE
Hall
Catherine M
CM
Costa
Teresa
T
Procter
Annie M
AM
Giblin
Carol A
CA
Donnai
Dian
D
Black
Graeme C
GC
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D050172:Genes, X-Linked; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010455:Peptides / Q000235:genetics*; D010641:Phenotype; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D010455:Peptides; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; D019382:Human Growth Hormone; C019529:polyalanine