The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations-Reference-Cited by-同舟云学术

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

Published:2022-07-29 Issue:10 Volume:43 Page:1377-1395
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van Woerden Geeske M.¹²³^ORCID,Senden Richelle²,de Konink Charlotte¹³,Trezza Rossella A.¹³,Baban Anwar⁴,Bassetti Jennifer A.⁵,van Bever Yolande²³,Bird Lynne M.⁶⁷,van Bon Bregje W.⁸,Brooks Alice S.²³,Guan Qiaoning⁹¹⁰,Klee Eric W.¹¹¹²,Marcelis Carlo⁸,Rosado Joel M.¹¹¹²¹³,Schimmenti Lisa A.¹⁴,Shikany Amy R.¹⁵,Terhal Paulien A.¹⁶,Nicole Weaver Kathryn⁹¹⁰,Wessels Marja W.²,van Wieringen Hester¹⁷,Hurst Anna C.¹⁸,Gooch Catherine F.¹⁸,Steindl Katharina¹⁹,Joset Pascal²⁰,Rauch Anita¹⁹^ORCID,Tartaglia Marco²¹^ORCID,Niceta Marcello²¹²²,Elgersma Ype²³,Demirdas Serwet²

Affiliation:

1. Department of Neuroscience Erasmus Medical Center Rotterdam The Netherlands

2. Department of Clinical Genetics Erasmus Medical Centre Rotterdam The Netherlands

3. Department of Clinical Genetics The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center Rotterdam The Netherlands

4. Pediatric Cardiology and Cardiac Arrhythmias Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

5. Division of Medical Genetics Weill Cornell Medicine New York City New York USA

6. Department of Pediatrics University of California San Diego San Diego California USA

7. Division of Genetics/Dysmorphology Rady Children's Hospital San Diego San Diego California USA

8. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

9. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

10. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

11. Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

12. Department of Quantitative Health Sciences Mayo Clinic Rochester Minnesota USA

13. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

14. Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology Mayo Clinic Rochester Minnesota USA

15. The Heart Institute Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

16. Department of Genetics University Medical Centre Utrecht Utrecht The Netherlands

17. Department of Pediatrics St. Antonius Hospital Nieuwegein The Netherlands

18. Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA

19. Institute of Medical Genetics University of Zürich Schlieren Switzerland

20. Department of Medical Genetics, Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland

21. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

22. Department of Pediatrics Sapienza University Rome Italy

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24425

Reference31 articles.

1. TAK1 mediates convergence of cellular signals for death and survival

2. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

3. Frontometaphyseal dysplasia and keloid formation withoutFLNAmutations

4. Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

5. 6q25.1 (TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy

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