Loss-of-function mutations in the CTNNB1 gene cause β-catenin deficiency, leading to CTNNB1 syndrome, a rare neurodevelopmental disorder marked by motor and cognitive impairments. Because the disease ...

Patients with CTNNB1 Syndrome will benefit from this joint effort to develop and manufacture a new AAV investigational gene therapy, which aims to restore gene function and may improve quality of life ...

A south metro family is getting closer to their 2-year-old possibly joining a first-of-its-kind gene therapy as the community rallies around them to fundraise. We first told you about Lucy Hieb in ...

MOBILE, Ala. (WALA) - Shreve McWilliams is so happy every day despite the challenges that she has faced since she was born. Her parents discovered through private genetic testing that she has a very ...

CTNNB1 syndrome is a neurodevelopmental disorder characterized by intellectual disability, global developmental delay, microcephaly and motor disabilities, among others, caused by pathogenic ...

A four-year-old from Inver Grove Heights is one of just a few hundred kids in the world with a rare genetic disorder. Mae Knopik has what is known as CTNNB1 Syndrome, a genetic disorder that is ...

GARRETSON, S.D. (KELO) — July 25 is the awareness day for a very rare syndrome, but one that a local child has. Carter Dreckman is a 3-year-old from Garretson, SD. “He’s a very typical three and a ...