Associated Papers
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).
Kawakita M et al.
Genes, 2023
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Winters KA et al.
American Journal of Medical Genetics. Part A, 2012
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