Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. [electronic resource]
Producer: 20190320Description: e0205298 p. digitalISSN:- 1932-6203
- Base Sequence
- Chromosome Breakpoints
- Facies
- Female
- Gene Expression
- Hearing Loss -- diagnosis
- Humans
- Intellectual Disability -- diagnosis
- Karyotype
- Language Development Disorders -- diagnosis
- NFI Transcription Factors -- deficiency
- POU Domain Factors -- deficiency
- Phenotype
- SOXD Transcription Factors -- deficiency
- Translocation, Genetic
- Whole Genome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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