article · Molecular Syndromology

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

Bayoumi A. Emam
Hassan Elkiki
Maha S. Zaki
Maha M. Eid
Sawsan Hassan Abdelhady
Mohamed S. Abdel‐Hamid
Omar Ragab
Marian Girgis
Ghada M. H. Abdel‐Salam

2024Open accessBeni Suef University

Abstract

The presence of a dragonfly/butterfly-like pattern in the coronal section of the cerebellum recommends genetic testing of <i>TSEN54</i> as a first step. For negative cases, whole-exome sequencing is essential to reach a definite diagnosis and determine the etiology.

Research topics

Fetal and Pediatric Neurological Disorders
Neonatal and fetal brain pathology
RNA modifications and cancer

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DOI: 10.1159/000539364

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