article_metadata: Constantia Aristidou Athina Theodosiou Mads Bak Mana M Mehrjouy Efthymia Constantinou Angelos Alexandrou Ioannis Papaevripidou Violetta Christophidou-Anastasiadou Nicos Skordis Sophia Kitsiou-Tzeli Niels Tommerup Carolina Sismani
article_metadata: 10.1371/journal.pone.0205298
article_metadata: PLoS One
article_metadata: 2018 Oct 5;13(10):e0205298.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30289920/
article_metadata: Facies Hearing Loss / genetics Intellectual Disability / genetics Language Development Disorders / genetics Translocation, Genetic
article_metadata: Facies Hearing Loss / genetics Intellectual Disability / genetics Language Development Disorders / genetics Translocation, Genetic Case Reports Research Support, Non-U.S. Gov't Base Sequence Chromosome Breakpoints Female Gene Expression Hearing Loss / diagnosis Hearing Loss / physiopathology Humans Intellectual Disability / diagnosis Intellectual Disability / physiopathology Karyotype Language Development Disorders / diagnosis Language Development Disorders / physiopathology NFI Transcription Factors / deficiency NFI Transcription Factors / genetics POU Domain Factors / deficiency POU Domain Factors / genetics Phenotype SOXD Transcription Factors / deficiency SOXD Transcription Factors / genetics Whole Genome Sequencing NFI Transcription Factors NFIB protein, human POU Domain Factors POU3F4 protein, human SOX5 protein, human SOXD Transcription Factors
article_metadata: PMC6173455
article_metadata: 30289920
article_metadata: Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
article_metadata: 2018