Associated Papers
Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.
Dantsev IS et al.
Translational Pediatrics, 2025
Genetic diagnosis of the Ehlers-Danlos syndromes.
Zschocke J et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Hadar N et al.
European Journal of Human Genetics : Ejhg, 2024
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