<scp> <i>TBX6</i> </scp> as a cause of a combined skeletal‐kidney dysplasia syndrome-Reference-Cited by-同舟云学术

TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome

Published:2022-09-26 Issue:12 Volume:188 Page:3469-3481
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:

Li Guozhuang¹²³,Strong Alanna⁴⁵^ORCID,Wang Haojun⁶,Kim Ji‐Sun⁷,Watson Deborah⁵,Zhao Sen¹²³,Vaccaro Courtney⁵,Hartung Erum⁸⁹,Hakonarson Hakon⁴⁵⁹¹⁰^ORCID,Zhang Terry Jianguo¹²³,Giampietro Philip F.⁷¹¹,Wu Nan¹²³

Affiliation:

1. Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

2. Key Laboratory of Big Data for Spinal Deformities Chinese Academy of Medical Sciences Beijing China

3. Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing China

4. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. The Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Department of Urology Beijing Chaoyang Hospital, Capital Medical University Beijing China

7. Department of Pediatrics Rutgers Robert Wood Johnson Medical Center New Brunswick New Jersey USA

8. Division of Nephrology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

9. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

10. Division of Pulmonary Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

11. Department of Pediatrics University of Illinois‐Chicago Chicago Illinois USA

Funder

Chinese Academy of Medical Sciences

National Natural Science Foundation of China

Natural Science Foundation of Beijing Municipality

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62972

Reference49 articles.

1. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

2. Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

3. Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment

4. Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6

5. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

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