Genetic & Genomic MedicineBloodPeer-reviewed
Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy
Mehul Sharma, Maggie P. Fu, Henry Y. Lu…·Stuart E. Turvey
The paper identifies a human with complete NFAT1 deficiency, revealing its role in joint contractures, osteochondromas, and B cell malignancy through single-cell omic analyses.
19 citations