Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Liu Q et al.
Frontiers in Medicine, 2025
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL et al.
European Journal of Medical Genetics, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D et al.
Bmc Pediatrics, 2021
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Sandler-Wilson C et al.
Bone, 2019
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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