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Perlman syndrome: Clinical report and nine-year follow-up

✍ Scribed by Maria Piccione; Massimiliano Cecconi; Mario Giuffrè; Margherita Lo Curto; Michela Malacarne; Ettore Piro; Andrea Riccio; Giovanni Corsello


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
164 KB
Volume
139A
Category
Article
ISSN
1552-4825

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Co ˆte ´et al. [1981: Ann Genet 24:231-235] suggested that ring chromosomes without a preceding deletion share a common pattern of phenotypic anomalies, independent of what chromosome is involved. The phenotype of such a "general ring syndrome" consists of growth failure without malformations, few o