Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput seque...

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Detalles Bibliográficos
Autores principales: Misceo, Doriana, Senaratne, Lokuliyanage Dona Samudita, Mero, Inger-Lise, Sundaram, Arvind Y. M., Bjørnstad, Pål Marius, Szczałuba, Krzysztof, Gasperowicz, Piotr, Kamien, Benjamin, Nedregaard, Bård, Holmgren, Asbjørn, Strømme, Petter, Frengen, Eirik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671177/
https://www.ncbi.nlm.nih.gov/pubmed/38002928
http://dx.doi.org/10.3390/genes14111985

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