Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan...
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2021-06-01T00:00:00Z.
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