Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism

Malan syndrome is an autosomal dominant disorder caused by pathogenic variants in NFIX with less than 100 cases reported thus far. NFIX is important for stem cell proliferation, quiescence, and differentiation during development and its protein plays a role in replication, signal transduction, and t...

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Detalles Bibliográficos
Autores principales: Langley, Elizabeth, Farach, Laura S., Mowrey, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682143/
https://www.ncbi.nlm.nih.gov/pubmed/36437934
http://dx.doi.org/10.3389/fgene.2022.1044660

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682143/
https://www.ncbi.nlm.nih.gov/pubmed/36437934
http://dx.doi.org/10.3389/fgene.2022.1044660

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