Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

BACKGROUND: Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2‐1 gene, indicating that mutat...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Liao, Jun, Coffman, Keith A., Locker, Joseph, Padiath, Quasar S., Nmezi, Bruce, Filipink, Robyn A., Hu, Jie, Sathanoori, Malini, Madan‐Khetarpal, Suneeta, McGuire, Marianne, Schreiber, Allison, Moran, Rocio, Friedman, Neil, Hoffner, Lori, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Surti, Urvashi
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2021
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123744/
https://ncbi.nlm.nih.gov/pubmed/33666368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1647
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