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
10.1371/journal.pone.0205298
PLoS One
2018 Oct 5;13(10):e0205298.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30289920/
Facies Hearing Loss / genetics Intellectual Disability / genetics Language Development Disorders / genetics Translocation, Genetic
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
PMC6173455
30289920
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
2018