News

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ...

Nineteen-year follow-up after initial examination on patients with Axenfeld-Rieger anomaly or syndrome (ARAS) and coexisting Fuchsʼ endothelial ...

The in-depth characterization of patients with common variable immunodeficiency (CVID) is a recent advancement, revealing a complex genetic ...

Ciliopathies are a group of neurodevelopmental disorders characterized by the dysfunction of the primary cilium.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable ...

This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding ...

The Institute of Medical Genetics at the University of Zurich will be open during the holiday season on specific days and times. Here you will ...

Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures ...

geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U.S.A

Pediatric Acute B-Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels.

Hydrocephalus and Dandy-Walker malformation are among the most common congenital brain anomalies.

From 2^nd of November, the Children's Hospital Zurich will be located at a new address.

In the future, your child's ...

Joubert Syndrome gene dysfunction in zebrafish leads to abnormal brain cilia, altered transcription of neuron-associated genes and abnormal ...

De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), ...

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched ...

The contribution of splicing variants to molecular diagnostics of inherited diseases is reported to be less than 10%. 

A gene called ZNRF3, known to be involved in cancer, also messes with the mind. The human brain relies on two copies of this gene to build a ...

Alterations in the X-linked recessive DMD gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging ...

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain ...

Background
Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of ...