Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 8787432.
- Also identified by PMC identifier 1511428.
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Abstract
A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.
Medical subject headings
- Congenital Disorders of Glycosylation
- Puberty