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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 Cho
Published in: Medicine (2024)
Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.
Keyphrases
  • young adults
  • single cell
  • extracellular matrix