Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.
Ju Heon ParkMinji ImYae-Jean KimJa-Hyun JangSae-Mi LeeMin-Sun KimSung Yoon ChoPublished in: Medicine (2024)
Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.