DOI: 10.1055/s-00000075

Seminars in Respiratory and Critical Care Medicine

References

Pacheco-Cuéllar G, Gauthier J, Désilets V. et al.
A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations.

J Bone Miner Res 2017;
32 (09) 1853-1859

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