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Article

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

American journal of medical genetics. Part A - 1 Feb 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 36380655
DOI: 10.1002/ajmg.a.63047
PMCID: PMC10099852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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