PMC Articles for MedGen (Select 862731) - PMC

Select item 39519451.

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2014 Mar 6; 94(3): 405–414. doi: 10.1016/j.ajhg.2014.01.020

PMCID:: PMC3951945

Abstract Article PDF–939K

Select item 67707912.

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

Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi

Genes (Basel) 2019 Sep; 10(9): 631. Published online 2019 Aug 21. doi: 10.3390/genes10090631

PMCID:: PMC6770791

Abstract Article PDF–2.0M

Select item 46370883.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Shuji Mizumoto, Shuhei Yamada, Kazuyuki Sugahara

Biomed Res Int. 2015; 2015: 861752. Published online 2015 Oct 25. doi: 10.1155/2015/861752

PMCID:: PMC4637088

Abstract Article PDF–612K

Select item 87908794.

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi

BMC Pediatr. 2022; 22: 63. Published online 2022 Jan 26. doi: 10.1186/s12887-022-03132-5

PMCID:: PMC8790879

Abstract Article PDF–1.2M

Select item 63235525.

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

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, University of Washington Center for Mendelian Genomics, Heather C. Mefford, Katia Sol-Church

Am J Hum Genet. 2019 Jan 3; 104(1): 35–44. Published online 2018 Dec 13. doi: 10.1016/j.ajhg.2018.11.005

PMCID:: PMC6323552

Abstract Article PDF–1.0M

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