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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |