Associated Papers
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM et al.
Journal of Medical Genetics, 2024
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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