These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
    Author: Vasquez-Forero DM, Masotto B, Ferrer-Avargues R, Moya CM, Pachajoa H.
    Journal: Front Genet; 2023; 14():1183362. PubMed ID: 37476413.
    Abstract:
    Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.
    [Abstract] [Full Text] [Related] [New Search]