A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome
Author:
Affiliation:
1. TRS Resource Centre for Rare Disorders Sunnaas Rehabilitation Hospital Oslo Norway
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/apa.15186
Reference92 articles.
1. Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
2. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
3. Difficulties in diagnosing Marfan's syndrome in childhood and adolescence. [German];Knirsch W;Klin Padiatr,2003
4. Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome
5. The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome
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1. Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study;Orphanet Journal of Rare Diseases;2024-04-30
2. Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain;European Journal of Pediatrics;2024-03-11
3. Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study;2023-09-11
4. Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health;American Journal of Medical Genetics Part A;2022-04-08
5. Tricuspid valve prolapse as an early predictor for severe phenotype in children with Marfan syndrome;Acta Paediatrica;2022-02-27
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