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

Am J Med Genet A. 2018 Jul;176(7):1683-1687. doi: 10.1002/ajmg.a.38689. Epub 2018 May 19.

Manar Zaghlula^{1

2}, Daniel G Glaze^{3

4

5}, Gregory M Enns⁶, Lorraine Potocki^{4

5

7}, Aloysia L Schwabe^{4

5

7}, Bernhard Suter^{3

4

5}

¹ Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas.
² Texas Children's Hospital, Jan and Dan Duncan Neurological Research Institute, Houston, Texas.
³ Department of Neurology, Baylor College of Medicine, Houston, Texas.
⁴ Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
⁵ Texas Children's Hospital, Houston, Texas.
⁶ Departments of Pediatrics and Pathology, Stanford University, Stanford, California.
⁷ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

No abstract available

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