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

ConclusionOur study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals withACAN variants. No clear genotype –phenotype relationship of patients withACAN variants was found. Gene sequencing is necessary to diagnoseACAN variants that cause short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused byACAN variants.

Source: Molecular Genetics & Genomic Medicine - April 13, 2024 Category: Genetics & Stem Cells Authors: Wei Tang, Ke ‐Mi Wu, Qiong Zhou, Yan‐Fei Tang, Jun‐Fen Fu, Guan‐Ping Dong, Chao‐Chun Zou Tags: ORIGINAL ARTICLE Source Type: research