Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Resource Type
Article
Authors
Ravindran, Ethiraj ; Jühlen, Ramona ; Vieira-Vieira, Carlos H ; Ha, Thuong ; Salzberg, Yuval ; Fichtman, Boris ; Luise-Becker, Lena ; Martins, Nuno ; Picker-Minh, Sylvie ; Bessa, Paraskevi ; Arts, Peer ; Jackson, Matilda R ; Taranath, Ajay ; Kamien, Benjamin ; Barnett, Christopher ; Li, Na ; Tarabykin, Victor ; Stoltenburg-Didinger, Gisela ; Harel, Amnon ; Selbach, Matthias
Source
Human Molecular Genetics; 11/15/2021, Vol. 30 Issue 22, p2068-2081, 14p
Subject
Language
ISSN
09646906