Co-occurrence of two rare diseases: a child with phenylketonuria and WNT1 osteoporosis
pubmed: wnt1 2024-12-21
Summary:
CONCLUSION: In a patient with a chronic disorder known to affect the skeleton, the presence of disproportionally severe osteoporosis should prompt further diagnostic work up, in order to explain the severe bone phenotype, thus enabling more efficient and targeted therapeutic interventions.