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Clinical and genetic heterogeneity of primary ciliopathies (Review)

Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic interactions and retrotransposon insertions have...

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Detalles Bibliográficos
Autores principales: Focşa, Ina Ofelia, Budişteanu, Magdalena, Bălgrădean, Mihaela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354309/
https://www.ncbi.nlm.nih.gov/pubmed/34278440
http://dx.doi.org/10.3892/ijmm.2021.5009