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.

Autor:	Zaghlula M; Graduate Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Jan and Dan Duncan Neurological Research Institute, Houston, Texas., Glaze DG; Department of Neurology, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Enns GM; Departments of Pediatrics and Pathology, Stanford University, Stanford, California., Potocki L; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Schwabe AL; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Suter B; Department of Neurology, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Jazyk:	angličtina
Zdroj:	American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jul; Vol. 176 (7), pp. 1683-1687. Date of Electronic Publication: 2018 May 19.
DOI:	10.1002/ajmg.a.38689
Databáze:	MEDLINE
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