TY  - GEN
AU  - Burkitt Wright,Emma M M
AU  - Perveen,Rahat
AU  - Clayton,Peter E
AU  - Hall,Catherine M
AU  - Costa,Teresa
AU  - Procter,Annie M
AU  - Giblin,Carol A
AU  - Donnai,Dian
AU  - Black,Graeme C
TI  - X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions
SN  - 1473-5717
PY  - 2009///1112
KW  - Adolescent
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genes, X-Linked
KW  - Human Growth Hormone
KW  - deficiency
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Peptides
KW  - genetics
KW  - Phenotype
KW  - SOXB1 Transcription Factors
KW  - Trinucleotide Repeat Expansion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1097/MCD.0b013e32832d06f0
ER  -