Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p...

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Detalles Bibliográficos
Autores principales: Siegert, Sandy, Mindler, Gabriel T., Brücke, Christof, Kranzl, Andreas, Patsch, Janina, Ritter, Markus, Janecke, Andreas R., Vodopiutz, Julia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622907/
https://www.ncbi.nlm.nih.gov/pubmed/34828254
http://dx.doi.org/10.3390/genes12111648

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622907/
https://www.ncbi.nlm.nih.gov/pubmed/34828254
http://dx.doi.org/10.3390/genes12111648

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