Omenn syndrome does not live by V(D)J recombination alone
Veronica Marrella(Institute of Genetic and Biomedical Research), Anna Villa(Institute of Genetic and Biomedical Research), Virginia Maina(Humanitas University)
Cited by 46
Related Papers
Osteopetrosis: genetics, treatment and new insights into osteoclast function
|Nature Reviews Endocrinology|2013|580
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
|Nature Genetics|2007|387
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
|The American Journal of Human Genetics|2008|307
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
|Journal of Clinical Investigation|2007|235
AIRE deficiency in thymus of 2 patients with Omenn syndrome
|Journal of Clinical Investigation|2005|152