Zaghlula, Manar

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