Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift <scp><i>SALL4</i></scp> variant-Reference-Cited by-同舟云学术

Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant

Published:2023-02-21 Issue:1 Volume:104 Page:133-135
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Kantaputra Piranit¹²^ORCID,Buaban Kittikhoon³,Thongsee Napaphat³,Kaewgahya Massupa¹,Quarto Natalina⁴,Carlson Bruce M.⁵,Ngamphiw Chumpol⁶,Tongsima Sissades⁶

Affiliation:

1. Center of Excellence in Medical Genetics Research, Faculty of Dentistry Chiang Mai University Chiang Mai Thailand

2. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University Chiang Mai Thailand

3. Dental Department Mae Ramat Hospital Tak Thailand

4. Division of Plastic and Reconstructive Surgery, Department of Surgery, School of Medicine Stanford University California USA

5. Department of Anatomy and Cell Biology University of Michigan Ann Arbor Michigan USA

6. National Biobank of Thailand National Science and Technology Development Agency (NSTDA) Thailand Science Park Pathum Thani Thailand

Funder

Health Systems Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14307

Reference5 articles.

1. A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence ofTBX5 mutations: Report of a Thai family

2. Quadricuspid aortic valve: a comprehensive review;Yuan SM;Cardiovasc Surg,2016

3. Shedding light on an old mystery: Thalidomide suppresses survival pathways to induce limb defects

4. Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome

5. Pattern ofp63 mutations and their phenotypes—update