Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review

CONCLUSION: Our study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals with ACAN variants. No clear genotype-phenotype relationship of patients with ACAN variants was found. Gene sequencing is necessary to diagnose ACAN variants that cause short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused by ACAN variants.PMID:38613222 | PMC:PMC11015147 | DOI:10.1002/mgg3.2439
Source: Molecular Medicine - Category: Molecular Biology Authors: Source Type: research