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Clinical features of patients with MAN1B1 deficiency.

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posted on 2013-12-12, 03:59 authored by Daisy Rymen, Romain Peanne, María B. Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G. Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs

+) or absence (−) of each feature is reported for each individual. The following abbreviations are used: NA, not available; yrs: years; F: female; M: male. The presence (

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