Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes. [electronic resource]
- American journal of medical genetics. Part A 07 2018
- 1683-1687 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Review
1552-4833
10.1002/ajmg.a.38689 doi
Child Female Humans Mutation Nuclear Proteins--genetics Phenotype Receptors, Cytoplasmic and Nuclear--genetics Repressor Proteins--genetics Rett Syndrome--genetics