| Literature DB >> 2066860 |
J Spranger1, G K Hinkel, H Stöss, W Thoenes, D Wargowski, F Zepp.
Abstract
On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.Entities:
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Year: 1991 PMID： 2066860 DOI： 10.1016/s0022-3476(05)81040-6
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406