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osteochondrodysplasias/albumin

Povezava se shrani v odložišče
ČlankiKliničnih preskušanjPatenti
2 rezultatov
A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by
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