Genetic mutations in RAB34 linked to rare bone and movement disorder

Researchers have identified compound heterozygous variants in the RAB34 gene as a cause of a rare skeletal ciliopathy syndrome. This discovery could help clinicians diagnose patients with unexplained bone deformities and movement problems, potentially opening pathways toward targeted treatments for a condition that has previously gone unidentified.

Originaltitel: Compound heterozygous variants in <i>RAB34</i> in a rare skeletal ciliopathy syndrome