AHDC1 missense mutations in Xia-Gibbs syndrome
Summary: Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals h...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2021-10-01
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Series: | HGG Advances |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2666247721000300 |