A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Atefeh MirYongjun SongHane LeeMostafa Montazer-ZohouriMarziyeh ReisiMohammad Amin TabatabaiefarPublished in: Molecular genetics & genomic medicine (2023)
The current study findings expand the existing knowledge of the variant on the ZNF142 gene implicated in the neurodevelopmental disorder, intellectual disability, and impaired speech and it presents a detailed clinical feature associated with related conditions. The data have implications for genetic diagnosis and counseling in families with the same disorders.