De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction - Concepedia

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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

DOI Full Paper Access

64

Citations

45

References

2017

Year

Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra KAYA KILIÇ, Anna Floriane Hennig, Nicolai Adolphs,

The American Journal of Human Genetics

Mendelian DisorderMitochondrial DysfunctionGenetic DisorderGeneticsInherited Metabolic DiseaseSlc25a24 CausePathologyCraniofacial DevelopmentDegenerative DiseaseMolecular GeneticsDe Novo MutationsMedicineCraniofacial Disorder

References

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