Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM.
Sentell ZT, et al. Among authors: chung cf.
Hum Mol Genet. 2024 Dec 18:ddae182. doi: 10.1093/hmg/ddae182. Online ahead of print.
Hum Mol Genet. 2024.
PMID: 39690811