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6 in total

Review 1. What is new in CDG?

Authors: Jaak Jaeken; Romain Péanne
Journal: J Inherit Metab Dis Date: 2017-05-08 Impact factor: 4.982

2. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Authors: Amy J LaCroix; Deborah Stabley; Rebecca Sahraoui; Margaret P Adam; Michele Mehaffey; Kelly Kernan; Candace T Myers; Carrie Fagerstrom; George Anadiotis; Yassmine M Akkari; Katherine M Robbins; Karen W Gripp; Wagner A R Baratela; Michael B Bober; Angela L Duker; Dan Doherty; Jennifer C Dempsey; Daniel G Miller; Martin Kircher; Michael J Bamshad; Deborah A Nickerson; Heather C Mefford; Katia Sol-Church
Journal: Am J Hum Genet Date: 2018-12-13 Impact factor: 11.025

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

Review 1. What is new in CDG?

2. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

3. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

Review 4. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Review 5. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Review 6. Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.