Genetic Evaluation of the Parents Following Demise of the Index Case: Report of a Family with Fucosidosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology
Link
http://link.springer.com/content/pdf/10.1007/s13224-020-01421-6.pdf
Reference4 articles.
1. Dukhovny S, Norton ME. What are the goals of prenatal genetic testing? Semin Perinatol. 2018;42(5):270–4.
2. Sheth J, Mistri M, Bhavsar R, et al. Lysosomal storage disorders in Indian children with neuroregression attending a genetic Center. Indian Pediatr. 2015;52:1029–33.
3. Gowda VK, Srinivasan VM, Vegda H, et al. Fucosidosis with pathogenic variant in FUCA1 gene. Indian J Pediatr. 2020. https://doi.org/10.1007/s12098-020-03246-7.
4. Mellis R, Chandler N, Chitty LS. Next-generation sequencing and the impact on prenatal diagnosis. Expert Rev Mol Diagn. 2018;18(8):689–99.
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1. Reporte de caso de fucosidosis en un niño mexicano y revisión de la literature;South Florida Journal of Development;2023-08-29
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