title: X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
authors: University of Manchester and Central Manchester University Hospitals Foundation Trust, St Mary's Hospital, UK.
authors: Emma M M
authors: EM
authors: Burkitt Wright
authors: Rahat
authors: R
authors: Perveen
authors: Peter E
authors: PE
authors: Clayton
authors: Catherine M
authors: CM
authors: Hall
authors: Teresa
authors: T
authors: Costa
authors: Annie M
authors: AM
authors: Procter
authors: Carol A
authors: CA
authors: Giblin
authors: Dian
authors: D
authors: Donnai
authors: Graeme C
authors: GC
authors: Black
mesh_terms: 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*
chemical_list: D010455:Peptides; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; D019382:Human Growth Hormone; C019529:polyalanine