Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
Abstract 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 a... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2022 |
Reihe/Periodikum: | American Journal of Medical Genetics Part A ; volume 191, issue 2, page 479-489 ; ISSN 1552-4825 1552-4833 |
Verlag/Hrsg.: |
Wiley
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Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27629127 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1002/ajmg.a.63047 |