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