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From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1
A decade has passed since transmembrane coiled-coil domains 1 (TMCO1) defect syndrome was identified in 11 undiagnosed patients within the Old Order Amish of Northeastern Ohio—a disorder characterized by a distinctive craniofacial dysmorphism, skeletal anomalies and global developmental delay. Twent...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172970/ https://www.ncbi.nlm.nih.gov/pubmed/34093650 http://dx.doi.org/10.3389/fgene.2021.652400 |