Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

Associated anomalies in cases with agenesis of the corpus callosum

(2019) Claude Stoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

(2019) Lena Sagi‐Dain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

(2018) Tessa Mattiske et al.   PLoS One

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

(2017) Ashley P. L. Marsh et al.   HUMAN MUTATION

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless- Related Homeodomain Transcription Factor ARX

(2017) Tessa Mattiske et al.   HUMAN MUTATION

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

(2017) Ashley P L Marsh et al.   NATURE GENETICS

Developmental interneuron subtype deficits after targeted loss of Arx

(2016) Eric D. Marsh et al.   BMC NEUROSCIENCE

Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis

(2016) F. DAntonio et al.   PEDIATRICS

Recurrent duplications of 17q12 associated with variable phenotypes

(2015) Elyse Mitchell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

(2015) Ching Moey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

(2015) Loubna Jouan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review

(2011) Alexandros Sotiriadis et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

(2011) C. Shoubridge et al.   HUMAN MOLECULAR GENETICS

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN