Ann Child Neurol.
2025 Jan;33(1):34-37. 10.26815/acn.2024.00773.
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
- Affiliations
-
- 1Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea
- 2Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Yangsan, Korea
- KMID: 2563066
- DOI: http://doi.org/10.26815/acn.2024.00773
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
- De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
- The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
- Costello syndrome: three sporadic cases
- De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
