Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on mag...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
Onderwerpen:
Research Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756669/
https://ncbi.nlm.nih.gov/pubmed/33131181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24127
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items