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The EDS spondylodysplastic type (group D: disorders of glycosaminoglycan biosynthesis) is either caused by homozygous or compound heterozygous mutations in the B4GALT7 gene on chromosome 5q35, or by mutations in the B3GALT6 gene (galactosytransferases) (OMIM # 615349) or in the SLC39A13 gene (zinc transporter) (OMIM # 612350) [2, 3]

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Assessments of medication adherence were also recorded at each clinical encounter, taking into account information provided by the patient, their family, and/or case manager using a 5-point rating scale (ranging from 0 for individuals not taking medication to 4 for those being adherent 75100% of the time)

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For cell lysate samples, we have confirmed that they can be stored for one month at -20C