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

To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across popu...

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Detalles Bibliográficos
Autores principales: Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099852/
https://www.ncbi.nlm.nih.gov/pubmed/36380655
http://dx.doi.org/10.1002/ajmg.a.63047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099852/
https://www.ncbi.nlm.nih.gov/pubmed/36380655
http://dx.doi.org/10.1002/ajmg.a.63047

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