Associated Papers
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.
Sun L et al.
Frontiers in Genetics, 2022
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s003.xlsx › FBN2_sensu_lato
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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