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Paper Details

Biallelic variants in RNU12 cause CDAGS syndrome.
Hum Mutat
5
2021
3', Anal and Genitourinary malformations, CDAGS Syndrome, CDAGS syndrome, Craniosynostosis, Delayed closure of the fontanelles, RNU12, RNU12 gene, RNU12 snRNA, Skin, Sm binding site, allele, clavicular hypoplasia, congenital disorder, cranial defects, craniosynostosis, cutaneous disease, differentially expressed genes, lymphoblastoid cells, minor intron, nucleotide, nucleotides, patient, patients, precursor U12, small nuclear RNA, snRNA
Author NameAffiliation
Chao XingMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center
Chao XingUniversity of Texas Southwestern Medical Center
Chao XingUniversity of Texas Southwestern Medical Center
Chao XingMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center
Chao XingUniversity of Texas Southwestern Medical Center
Chao XingUniversity of Texas Southwestern Medical Center
Mohammed KanchwalaMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center
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Release 1.2