Novel SEMA3E Frameshift Variant Linked to CHARGE-Like Features in Child
A one-year-old boy with CHARGE-like features carried a novel de novo SEMA3E frameshift variant predicted to truncate the protein within ...
Tag: de novo mutation
Polish boy’s KAT6A variant expands known spectrum of Arboleda-Tham syndrome
A case report describes a Polish boy with global developmental delay whose diagnosis of Arboleda-Tham syndrome was confirmed by a ...
Novel De Novo MTM1 Frameshift Variant Drives Severe Muscle Disease in a Young Chinese Woman
A novel de novo MTM1 frameshift variant has been identified in a Chinese woman with lifelong progressive muscle weakness, expanding ...
Case Study: CHARGE Syndrome Linked to CHD7 Variant
In a striking case that underscores the complexities of genetic disorders, researchers have recently reported a de novo variant in ...
