Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge

Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked Pelizaeus-Merzbacher disease, a progressive hypomyel...

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Detalles Bibliográficos
Autores principales: Rogac, Mihael, Kovanda, Anja, Lovrečić, Luca, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10407396/
https://www.ncbi.nlm.nih.gov/pubmed/37560384
http://dx.doi.org/10.3389/fgene.2023.1173426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10407396/
https://www.ncbi.nlm.nih.gov/pubmed/37560384
http://dx.doi.org/10.3389/fgene.2023.1173426

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