Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 mont...

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Hlavní autoři: Eason, J, Hall, C M, Trounce, J Q
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050326/
https://ncbi.nlm.nih.gov/pubmed/7783178
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