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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.
Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl wi …
Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling La …
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E. Noordam C, et al. Acta Paediatr. 2009 Mar;98(3):490-4. doi: 10.1111/j.1651-2227.2008.01145.x. Epub 2008 Dec 4. Acta Paediatr. 2009. PMID: 19055655
The clinical features and the family history were suggestive for autosomal recessive cutis laxa syndrome type II, partially overlapping with geroderma osteodysplastica. Skeletal survey, sequential bone density measurements, endocrine and metabolic investigations wer …
The clinical features and the family history were suggestive for autosomal recessive cutis laxa syndrome type II, partially overlapping with …