Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
Article in American Journal of Medical Genetics Part A (April 2024)
The most recent citing publications are shown below. View all 4 publications that cite this research output on Dimensions.
A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant
Article in Clinical Case Reports (June 2023)
Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
Article in BMC Endocrine Disorders (May 2023)