Novel De Novo Heterozygous Variants in the SON Gene Causing ZTTK Syndrome: A Case Report of Two Patients and Review of Neurological Findings

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a newly described autosomal dominant multisystem developmental disorder resulting from a mutation of the SON gene located on chromosome region 21q22.11. It is characterized by heterogeneous features such as intellectual disability, facial dysmorphisms, po...

Descripción completa

Detalles Bibliográficos
Autores principales: Eid, Maya, Bhatia, Sonal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9661544/
https://www.ncbi.nlm.nih.gov/pubmed/36387043
http://dx.doi.org/10.1177/2329048X221119658

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9661544/
https://www.ncbi.nlm.nih.gov/pubmed/36387043
http://dx.doi.org/10.1177/2329048X221119658

Ejemplares similares