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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Chongqing Medical University
2019
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| Materias: | |
| 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 |