Associated Papers
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M et al.
Journal of Medical Genetics, 2022
34815299 (PubMed )
Supplement: jmedgenet-2020-107623supp003.xlsx › Sheet1
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Dündar M et al.
American Journal of Human Genetics, 2009
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