Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
Hum Genome Var
; 11(1): 21, 2024 May 16.
Article
en En
| MEDLINE
| ID: mdl-38755172
ABSTRACT
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
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Base de datos:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón