Biallelic variants in RNU12 cause CDAGS syndrome

CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sanger sequencing to identify the underlying molecul...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 2021-08, Vol.42 (8), p.1042-1052
Hauptverfasser:	Xing, Chao, Kanchwala, Mohammed, Rios, Jonathan J., Hyatt, Tommy, Wang, Richard C., Tran, An, Dougherty, Irene, Tovar‐Garza, Andrea, Purnadi, Christy, Kumar, Monique G., Berk, David, Shinawi, Marwan, Irvine, Alan D., Toledo‐Bahena, Mirna, Agim, Nnenna G., Glass, Donald A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Alternative splicing anal anomalies Anal Canal - abnormalities Binding sites CDAGS syndrome Cranial sutures Craniosynostoses - genetics Craniosynostosis Digestive System Abnormalities Humans Hypoplasia Nucleotides Porokeratosis Protein structure RNA Splicing RNA, Small Nuclear - chemistry RNA, Small Nuclear - genetics RNU12 Secondary structure Sequence analysis snRNA spliceosome Transcriptomes
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!