Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

The uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. We have identified two additional patients with compound heterozygous KIAA1109 variants presentin...

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Detalles Bibliográficos
Autores principales: Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411657/
https://www.ncbi.nlm.nih.gov/pubmed/30906834
http://dx.doi.org/10.1016/j.gendis.2018.12.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411657/
https://www.ncbi.nlm.nih.gov/pubmed/30906834
http://dx.doi.org/10.1016/j.gendis.2018.12.004

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