X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

Burkitt Wright, Emma M M

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. [electronic resource] - Clinical dysmorphology Oct 2009 - 218-21 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1473-5717

10.1097/MCD.0b013e32832d06f0 doi


Adolescent
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Female
Genes, X-Linked
Human Growth Hormone--deficiency
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Pedigree
Peptides--genetics
Phenotype
SOXB1 Transcription Factors--genetics
Trinucleotide Repeat Expansion--genetics