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Desbuquois syndrome: three further cases and review of the literature.
Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nöthen M, Albrecht B, Beemer FA, Zerres K. Gillessen-Kaesbach G, et al. Clin Dysmorphol. 1995 Apr;4(2):136-44. Clin Dysmorphol. 1995. PMID: 7606320 Review.
We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pediatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal re …
We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, …
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.
The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. ...Biallelic …
The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short s …
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S, Yamada S, Sugahara K. Mizumoto S, et al. Biomed Res Int. 2015;2015:861752. doi: 10.1155/2015/861752. Epub 2015 Oct 25. Biomed Res Int. 2015. PMID: 26582078 Free PMC article. Review.
Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a number of genetic disorders, called glycosaminoglycan linkeropathies, including Desbuquois dysplasia type 2, spondyloe …
Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a …