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Table 2 Gene-specific minor criteria and other features of spEDS according to the 2017 EDS nosology [1, 2] and comparison to LRS [9]

From: Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

  1. 1present patient included; 2tooth discoloration, dysplastic teeth; na: not available. The gene-specific minor criteria for all types of spEDs are indicated in bold and in light grey, in dark gray the signs observed in the present patient
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172