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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

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書誌詳細
出版年:Clin Case Rep
主要な著者: Poyatos‐Andújar, Antonio Miguel, García‐Linares, Susana, Carretero, Pilar, Ocon, Olga, Fresneda, Dolores, Gort, Laura, Molina García, Francisa Sonia
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869334/
https://ncbi.nlm.nih.gov/pubmed/33598246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3644
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