Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions
Authors' conclusion
Although individuals with heterozygous ACAN deletions exhibit phenotypic variability, it is noticeable that they present with a quite homogeneous and age-dependent phenotype with a high proportion of severe joint problems.
Study context
- Population
- Individuals with heterozygous ACAN deletions; probands referred for short stature to paediatric endocrinology and genetic clinics in different European hospitals6 families
- Participants
- 15 individuals
- Outcome
- Genotype and clinical/radiological phenotype
Methodological detailsmulticentre, Segregation studies performed when available after molecular detection of the deletion
- Multicentre
- Segregation studies performed when available after molecular detection of the deletion
Main finding
As reported in the abstract
Complete deletions
3
Intragenic deletions
3
Observational data: associations, not effects.
Original publication
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions. Clin Endocrinol (Oxf). Published 24 March 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →