Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease

A family with a history of Pelizaeus-Merzbacher disease (PMD) received prenatal diagnosis of PLP1 gene duplication in a fetus using a single nucleotide polymorphism (SNP) array. A 27-year-old pregnant woman was referred for genetic counseling due to her four-year-old son being diagnosed with a suspe...

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Detalles Bibliográficos
Autores principales: Xue, Huili, Yu, Aili, Chen, Xuemei, Lin, Na, Lin, Min, Huang, Hailong, Xu, Liangpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835049/
https://www.ncbi.nlm.nih.gov/pubmed/33429367
http://dx.doi.org/10.18632/aging.202477

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835049/
https://www.ncbi.nlm.nih.gov/pubmed/33429367
http://dx.doi.org/10.18632/aging.202477

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