Associated Papers
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D et al.
Bmc Pediatrics, 2021
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG et al.
Genes, 2019
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2017
A case of Ehlers-Danlos syndrome.
NICOD M
Annales Paediatrici. International Review of Pediatrics, 1946
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