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Article

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

28 May 2015

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26027496
DOI: 10.1016/j.ajhg.2015.04.017

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing DefectsPMID 26027496Read ↗

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.Semantic proximity Read ↗

Two novel mutations in XYLT2 cause spondyloocular syndrome.Semantic proximity Read ↗

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].Semantic proximity Read ↗

Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum.Semantic proximity Read ↗

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.Semantic proximity Read ↗

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.Semantic proximity Read ↗

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.Semantic proximity Read ↗

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.Semantic proximity Read ↗

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.Semantic proximity Read ↗

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.Semantic proximity Read ↗

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