A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.

Jiang, Rong; Qiu, Xueting; Han, Xingfa; Ma, Zhimin

Jiang, Rong; Qiu, Xueting; Han, Xingfa; Ma, Zhimin.

Afiliação

Jiang R; Endocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.
Qiu X; Endocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.
Han X; Endocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.
Ma Z; Endocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.

Clin Case Rep ; 12(5): e8860, 2024 May.

Article em En | MEDLINE | ID: mdl-38736573

ABSTRACT

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.

Palavras-chave

ANOS1; Kallmann syndrome; c.1187C>A; novel mutation; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2024 Tipo de documento: Article