Stouffs, K
Expanding the clinical spectrum of biallelic ZNF335 variants. [electronic resource]
- Clinical genetics 08 2018
- 246-251 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.13260 doi
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