Cargando…
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15–30% of cases craniosynostosis occurs in association with other physical an...
Autores principales: | Zollino, Marcella, Lattante, Serena, Orteschi, Daniela, Frangella, Silvia, Doronzio, Paolo N., Contaldo, Ilaria, Mercuri, Eugenio, Marangi, Giuseppe |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651252/ https://www.ncbi.nlm.nih.gov/pubmed/29093661 http://dx.doi.org/10.3389/fnins.2017.00587 |
Ejemplares similares
-
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines
por: Lattante, Serena, et al.
Publicado: (2020) -
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
por: MARANGI, Giuseppe, et al.
Publicado: (2020) -
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
por: Parenti, Ilaria, et al.
Publicado: (2021) -
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
por: Pasquetti, Domizia, et al.
Publicado: (2023) -
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
por: Parodi, Chiara, et al.
Publicado: (2021)