Deletion of conserved non‐coding sequences downstream from NKX2‐1 : A novel disease‐causing mechanism for benign hereditary chorea-Reference-Cited by-同舟云学术

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

Published:2021-03-05 Issue:4 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Liao Jun¹²^ORCID,Coffman Keith A.³,Locker Joseph⁴,Padiath Quasar S.²^ORCID,Nmezi Bruce²,Filipink Robyn A.³,Hu Jie¹⁵,Sathanoori Malini¹⁴⁵,Madan‐Khetarpal Suneeta³,McGuire Marianne³,Schreiber Allison⁶,Moran Rocio⁶,Friedman Neil⁷,Hoffner Lori⁸,Rajkovic Aleksandar²⁴⁵⁸,Yatsenko Svetlana A.¹²⁴⁵⁸,Surti Urvashi¹²⁴⁵⁸

Affiliation:

1. Pittsburgh Cytogenetics Laboratory Magee‐Womens Hospital of UPMC Pittsburgh PA USA

2. Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh PA USA

3. Department of Pediatrics University of Pittsburgh School of Medicine Pittsburgh PA USA

4. Department of Pathology University of Pittsburgh School of Medicine Pittsburgh PA USA

5. Department of Obstetrics, Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh PA USA

6. Genomic Medicine Institute Cleveland Clinic Cleveland OH USA

7. Center for Pediatric Neurology Cleveland Clinic Cleveland OH USA

8. Magee Womens Research InstituteUniversity of Pittsburgh Medical Center Pittsburgh PA USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1647

Reference33 articles.

1. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1

2. Mutations inTITF1 are not relevant to sporadic and familial chorea of unknown cause

3. Clinical and genetic heterogeneity in benign hereditary chorea

4. Mutations in TITF-1 are associated with benign hereditary chorea

5. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study

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