Inês Martins PhD, Associate Director of Science Content —

Most children with X‐linked hypophosphatemia (XLH) have complex deformities in their lower limbs that cause significant gait abnormalities, a study has found. Notably, a distinctive gait problem called “waddling gait” — moving the trunk sideways while walking — is a major mechanism to compensate for bowed legs, and…

In cases of suspected familial hypophosphatemia, sequencing the four disease-causing genes at once is a useful approach to determine the exact genetic cause and corresponding disease subtype, a case report suggests. Using that approach, researchers found a novel mutation in the PHEX gene, which was the cause of…