Article
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Human molecular genetics - 1 Nov 2021
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, Dickmanns Achim, Fahrenkrog Birthe, Hu Hao, Scott Hamish, Kaindl Angela M
Abstract excerpt
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of autosomal recessive inherited diseases characterized by primary (congenital) microcephaly, the absence of visceral abnormalities, and a variable degree of cognitive impairment, short stature and facial dysmorphism. Recently, biallelic variants in the nuclear pore complex (NPC) component...
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