<scp>Loeys–Dietz</scp> syndrome caused by 1q41 deletion including <scp> <i>TGFB2</i> </scp> is associated with a neurodevelopmental phenotype-Reference-Cited by-同舟云学术

Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

Published:2022-04-15 Issue:7 Volume:188 Page:2237-2241
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Fry Deanna¹^ORCID,Groepper Daniel²,MacCarrick Gretchen³,Demo Erin M.⁴,Thomas Matthew J.⁵,Wilkes Margaret J.⁶,Lyons Michael J.⁶,Tucker Megan E.¹,Steding Catherine¹⁷⁸,Fleischer Julie²^ORCID

Affiliation:

1. Genetic Counseling Indiana State University Terre Haute Indiana USA

2. Department of Pediatrics Southern Illinois University School of Medicine Springfield Illinois USA

3. Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

4. Sibley Heart Center Cardiology, Children's Healthcare of Atlanta Atlanta Georgia USA

5. Department of Pediatrics University of Virginia Charlottesville Virginia USA

6. Greenwood Genetic Center Greenwood South Carolina USA

7. The Rich and Robin Porter Cancer Research Center Terre Haute Indiana USA

8. Marian University College of Osteopathic Medicine Indianapolis Indiana USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62758

Reference7 articles.

1. Spatiotemporal Role of Transforming Growth Factor Beta 2 in Developing and Mature Mouse Hindbrain Serotonergic Neurons

2. Rrp15p, a novel component of pre-ribosomal particles required for 60S ribosome subunit maturation

3. The roles of RRP15 in nucleolar formation, ribosome biogenesis and checkpoint control in human cells

4. 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood

5. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm