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Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.
D'hondt S, Van Damme T, Malfait F. D'hondt S, et al. Genet Med. 2018 Jun;20(6):562-573. doi: 10.1038/gim.2017.138. Epub 2017 Oct 5. Genet Med. 2018. PMID: 28981071 Free PMC article. Review.
PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. ...Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic …
PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascul …
Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F. Basalom S, et al. Curr Osteoporos Rep. 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. Curr Osteoporos Rep. 2020. PMID: 32162201 Review.
PURPOSE OF REVIEW: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS). RECENT FINDINGS: Low bone mineral density and fractures seem to be frequent in some of the rare EDS types (kyphoscoliotic, arthrochalasia, spo …
PURPOSE OF REVIEW: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS). RECEN …
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M. Ritelli M, et al. Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631. Genes (Basel). 2019. PMID: 31438591 Free PMC article. Review.
Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers …
Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular …