A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.
Clin Case Rep
; 12(5): e8860, 2024 May.
Article
en En
| MEDLINE
| ID: mdl-38736573
ABSTRACT
We reported a novel variant in Kallmann syndrome. It not only determines the clinical importance of whole exome sequencing for identification of genetic pathogenic variants, but also enriches the ANOS1 genetic spectrum of CHH patients in Chinese population.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido