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...
| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
KeAi Communications Co., Ltd.
2019-03-01
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| coleção: | Genes and Diseases |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2352304218301090 |