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

Monogenic disorders that mimic the phenotype of Rett syndrome

(2018) Siddharth Srivastava et al.   NEUROGENETICS

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1

(2017) Anne Slavotinek et al.   European Journal of Medical Genetics

Structure of the MeCP2–TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders

(2017) Valdeko Kruusvee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

(2016) Samin A. Sajan et al.   GENETICS IN MEDICINE

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

(2016) Mario Lucariello et al.   HUMAN GENETICS

A specific mutation inTBL1XR1causes Pierpont syndrome

(2016) Charlotte A Heinen et al.   JOURNAL OF MEDICAL GENETICS

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MECP2 disorders: from the clinic to mice and back

(2015) Laura Marie Lombardi et al.   JOURNAL OF CLINICAL INVESTIGATION

Rett syndrome: a complex disorder with simple roots

(2015) Matthew J. Lyst et al.   NATURE REVIEWS GENETICS

De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability

(2014) Anne-Claude Tabet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new syndrome of intellectual disability with dysmorphism due toTBL1XR1deletion

(2014) Linda Pons et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

(2014) Hirotomo Saitsu et al.   JOURNAL OF HUMAN GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

(2008) J. L. Neul et al.   NEUROLOGY