Associated Papers
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG et al.
American Journal of Medical Genetics. Part A, 2016
A case of Ehlers-Danlos syndrome.
NICOD M
Annales Paediatrici. International Review of Pediatrics, 1946
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