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European Journal of Medical Genetics, ISSN 1769-7212, 2018, p. 103585
Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have... 
XYLT2 | Osteoporosis | Retinal detachment | Spondyloocular syndrome | Cataract
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3195 - 3200
We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the XYLT2 gene. The patients present severe... 
XYLOSYLTRANSFERASE II | cataract | GENE | GENETICS & HEREDITY | XYLT2 | osteochondrodysplasia | spondyloocular syndrome | osteoporosis
Journal Article
Genes, ISSN 2073-4425, 08/2019, Volume 10, Issue 9, p. 631
The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal... 
spondylo-ocular syndrome | B3GAT3 | spondylodysplastic Ehlers-Danlos syndrome | Desbuquois dysplasia | XYLT2 | linkeropathies | XYLT1 | B3GALT6 | Larsen-like syndrome | B4GALT7
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, p. 144
We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized... 
Osteoporosis | Cataract | Xylosyltransferase II (XYLT2) | Spondyloocular syndrome (SOS) | Whole-exome-sequencing (WES) | spondyloocular syndrome (SOS) | cataract | GENE | OCULAR SYNDROME | whole-exome-sequencing (WES) | GENETICS & HEREDITY | xylosyltransferase II (XYLT2) | MUTATIONS | osteoporosis
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 913 - 918
Journal Article
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