| Literature DB >> 1424243 |
M Le Merrer1, A David, F Goutieres, M L Briard.
Abstract
In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.Entities:
Mesh:
Year: 1992 PMID: 1424243 DOI: 10.1111/j.1399-0004.1992.tb03236.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438