Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines. [electronic resource]
Producer: 20191114Description: 581-585 p. digitalISSN:- 1399-0004
- Alleles
- Biomarkers
- Dendritic Spines -- metabolism
- Fluorescent Antibody Technique
- Genes, Reporter
- Humans
- Immunohistochemistry
- Male
- Neurodevelopmental Disorders -- diagnosis
- Neurons -- metabolism
- Phenotype
- Polymorphism, Single Nucleotide
- Protein Transport
- Protein Tyrosine Phosphatase, Non-Receptor Type 4 -- genetics
- STAT3 Transcription Factor -- genetics
- Signal Transduction
- Exome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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