Expanding the clinical spectrum of biallelic ZNF335 variants. [electronic resource]
Producer: 20191115Description: 246-251 p. digitalISSN:- 1399-0004
- Alleles
- Alternative Splicing -- genetics
- Basal Ganglia -- pathology
- Brain -- metabolism
- DNA-Binding Proteins
- Female
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Intracellular Signaling Peptides and Proteins -- genetics
- Male
- Microcephaly -- epidemiology
- Mutation
- Nerve Degeneration -- epidemiology
- Neurogenesis -- genetics
- Nuclear Proteins -- genetics
- Pedigree
- Polymorphism, Single Nucleotide -- genetics
- Transcription Factors
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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