X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. [electronic resource]
Producer: 20091112Description: 218-21 p. digitalISSN:- 1473-5717
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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