Kallmann Syndrome Due to Heterozygous Mutation in <i>SOX10</i> Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Chen, Kan; Wang, Haoyu; Lai, Yaxin

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Chen, Kan; Wang, Haoyu; Lai, Yaxin.

Afiliação

Chen K; Liaoning Provincial Key Laboratory of Endocrine Diseases, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Hospital, China Medical University, Shenyang, China.
Wang H; Liaoning Provincial Key Laboratory of Endocrine Diseases, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Hospital, China Medical University, Shenyang, China.
Lai Y; Liaoning Provincial Key Laboratory of Endocrine Diseases, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Hospital, China Medical University, Shenyang, China.

Front Endocrinol (Lausanne) ; 11: 592831, 2020.

Article em En | MEDLINE | ID: mdl-33597923

Assuntos

Heterozigoto; Síndrome de Kallmann/patologia; Mutação; Fatores de Transcrição SOXE/genética; Síndrome de Waardenburg/patologia; Adulto; Humanos; Síndrome de Kallmann/complicações; Síndrome de Kallmann/genética; Masculino; Síndrome de Waardenburg/complicações; Síndrome de Waardenburg/genética

Palavras-chave

Kallmann syndrome; SOX10 mutations; Waardenburg syndrome type â¡; co-occurrence; hypogonadotropic hypogonadism; sensorineural deafness

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Síndrome de Kallmann / Fatores de Transcrição SOXE / Heterozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Front Endocrinol (Lausanne) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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