Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report

In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis, dysmorphic craniofacial features, and dental malo...

Descripción completa

Detalles Bibliográficos
Autores principales: Kidwai, Fahad K., Mui, Byron W. H., Almpani, Konstantinia, Jani, Priyam, Keyvanfar, Cyrus, Iqbal, Kulsum, Paravastu, Sriram S., Arora, Deepika, Orzechowski, Pamela, Merling, Randall K., Mallon, Barbara, Myneni, Vamsee D., Ahmad, Moaz, Kruszka, Paul, Muenke, Maximilian, Woodcock, Jeremiah, Gilman, Jeffrey W., Robey, Pamela G., Lee, Janice S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544470/
https://www.ncbi.nlm.nih.gov/pubmed/34698187
http://dx.doi.org/10.3390/jdb9040039

Ejemplares similares

Ejemplares similares