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Familial Renal Tubular Dysgenesis - A Disorder Not Isolated to Proximal Convoluted Tubules

Pediatric pathology & laboratory medicine(1995)

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摘要
The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arab descent, are described. Hypocalvaria and hyperflexible joints were noted in addition to the renal lesion. A microdissection study demonstrated marked shortening of all the nephron segments from the glomeruli to the collecting tubules, rather than an isolated abnormality of the proximal convoluted tubules.
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关键词
AUTOSOMAL RECESSIVE DISORDER,HYPOCALVARIA,OLIGOHYDRAMNIOS,POTTER SEQUENCE,RENAL TUBULAR DYSGENESIS
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