Teenage girl with proteinuria and amenorrhea
作者:
Jennifer Hausladen,
Eileen Granahan,
Detlef Bockenhauer,
期刊:
Current Opinion in Pediatrics
(OVID Available online 2001)
卷期:
Volume 13,
issue 2
页码: 150-153
ISSN:1040-8703
年代: 2001
出版商: OVID
数据来源: OVID
摘要:
Recent research has advanced the understanding of many diseases to a molecular level. Described here is the case of a teenage girl with proteinuria and primary amenorrhea. We present the current knowledge of her underlying disorder, Frasier syndrome, and its genetic basis, which are specific mutations in the Wilms tumor gene. The findings in Frasier syndrome research are contrasted with those of a related disorder, Denys-Drash syndrome, which is caused by different mutations in the same gene.
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