Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships-Reference-Cited by-同舟云学术

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Published:2022-11-15 Issue:2 Volume:191 Page:479-489
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:

Lauffer Peter¹^ORCID,Pals Gerard²,Zwinderman Aeilko H.³,Postema Floor A. M.⁴,Baars Marieke J. H.²,Dulfer Eelco⁵,Hilhorst‐Hofstee Yvonne⁶,Houweling Arjan C.⁷,Kempers Marlies⁸,Krapels Ingrid P. C.⁹,van de Laar Ingrid M. B. H.¹⁰,Loeys Bart⁸¹¹,Spaans Alexander M. J.¹²,Warnink‐Kavelaars Jessica¹³,de Waard Vivian¹⁴,Wit Jan M.¹⁵,Menke Leonie A.⁴

Affiliation:

1. Department of Pediatric Endocrinology, Emma Children's Hospital Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

2. Department of Human Genetics Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

3. Department of Clinical Epidemiology, Bioinformatics and Biostatistics Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

4. Department of Pediatrics, Emma Children's Hospital Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

5. Department of Clinical Genetics University Medical Center Groningen Groningen The Netherlands

6. Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

7. Department of Human Genetics Amsterdam University Medical Center, Vrije Universiteit Amsterdam Amsterdam The Netherlands

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

9. Department of Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands

10. Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands

11. Center of Medical Genetics, Antwerp University Hospital Edegem Belgium

12. Growth Analyser B.V. Rotterdam The Netherlands

13. Department of Rehabilitation Medicine, Emma Children's Hospital, Amsterdam Movement Sciences, Rehabilitation and Development Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

14. Department of Medical Biochemistry Amsterdam University Medical Center, University of Amsterdam, Amsterdam Cardiovascular Sciences Amsterdam The Netherlands

15. Department of Pediatrics, Willem‐Alexander Children's Hospital Leiden University Medical Center Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63047

Reference43 articles.

1. Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

2. Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events

3. Skeletal evolution in Marfan syndrome: growth curves from a French national cohort

4. Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

5. Epidemiological Profile of Marfan Syndrome in a General Population: A National Database Study