Advance in the immunodeficiency-centromeric instability-facial anomalies syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 237-240, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-990020
ABSTRACT
The immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is the only known human genetic disease involving DNA methylation defects.About 50% of the cases are caused by the compound heterozygous mutation of DNMT3B gene.About a hundred cases were reported in the world, but only a few cases came from China.There may be a misdiagnosis and missed diagnosis.To the best of our knowledge, no Chinese article systematically discusses the ICF syndrome.This paper aims to review the possible mechanisms, clinical manifestations, genetic characteristics, treatment, and prognosis of the ICF syndrome, and to improve Chinese doctors′ knowledge about this disease.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Applied Clinical Pediatrics
Año:
2023
Tipo del documento:
Artículo
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