Phenotypic Variability of Genetic Diseases in Children

Dear Colleagues,

The past few decades has seen significant advancements in Next-Generation Sequencing (NGS) technology. The growing accessibility of whole-exome and -genome sequencing (WES and WGS, respectively) has revolutionized the clinical practice of numerous fields in pediatrics. Furthermore, this has shed new light on current knowledge regarding the phenotypic variability of rare genetic disorders affecting infants and children, as individuals less severely affected, or those presenting with atypical or previously unrecognized phenotypic features, are now more likely to achieve a molecular diagnosis.

The aim of this Special Issue is to provide updated and novel insights into the phenotypic spectrum of rare genetic disorders affecting children. Furthermore, we aim to showcase new discoveries into the associations between genes and human phenotypes. Colleagues are encouraged to submit original articles or reviews on this topic.

Dr. Ben Pode-Shakked
Guest Editor

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• phenotypic variability
• genetic disorders
• rare diseases
• neurodevelopmental disorders
• craniofacial anomalies
• next-generation sequencing