Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00223-024-01234-z.pdf
Reference12 articles.
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2. Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO et al (2015) Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96(6):971–978
3. Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z et al (2016) Spondyloocular syndrome: novel mutations in XYLT2 gene and expansion of the phenotypic spectrum. J Bone Miner Res 31(8):1577–1585
4. Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D et al (2018) Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin Genet 93(4):913–918
5. Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M (2019) Intrafamilial variability of XYLT2-related spondyloocular syndrome. Eur J Med Genet 62(11):103585
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