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...
| Κύριοι συγγραφείς: | , , , , , |
|---|---|
| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
KeAi Communications Co., Ltd.
2019-03-01
|
| Σειρά: | Genes and Diseases |
| Διαθέσιμο Online: | http://www.sciencedirect.com/science/article/pii/S2352304218301090 |