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 populations. Height and weight data of individuals with MFS aged 0–21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype–phenotype relationships, FBN1 variant type was included as an indepen... Mehr ...
| Verfasser: |
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. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2023 |
| Reihe/Periodikum: |
Lauffer , P , Pals , G , Zwinderman , A H , Postema , F A M , Baars , M J H , Dulfer , E , Hilhorst-Hofstee , Y , Houweling , A C , Kempers , M , Krapels , I P C , van de Laar , I M B H , Loeys , B , Spaans , A M J , Warnink-Kavelaars , J , de Waard , V , Wit , J M & Menke , L A 2023 , ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ' , American Journal of Medical Genetics, Part A , vol. 191 , no. 2 , pp. 11 . https://doi.org/10.1002/ajmg.a.63047 |
| Schlagwörter: |
dominant-negative variant
/ growth charts
/ haploinsufficiency variant
/ height
/ Marfan syndrome
/ weight |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-27600958 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://hdl.handle.net/11370/70f7b95c-e5b5-4d98-841f-eeb1d9c53c32 |
