Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

    February 2019 in “ Genes ”
    Marco Ritelli, Valeria Cinquina, Marina Venturini … Marina Colombi
    Studysummary This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
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