Associated Papers
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.
Chouery E et al.
Genes, 2023
36833424 (PubMed )
Supplement: genes-14-00497-s001.zip › genes-2215459-supplementary.xlsx › Sheet1
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
Doddato G et al.
Frontiers in Genetics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Guleray N et al.
European Journal of Medical Genetics, 2019
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.
Kausar M et al.
Frontiers in Genetics, 2019
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
Umair M et al.
Clinical Genetics, 2018
Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan F et al.
American Journal of Medical Genetics. Part A, 2017
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF et al.
American Journal of Human Genetics, 2015
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
Mizumoto S et al.
Biomed Research International, 2015
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