Clinical, Genetic and Functional Characterization of a Novel <i>AVPR2</i> Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.

Selvaraj, Senthil; Rodrigues, Dírcea; Krishnamoorthy, Navaneethakrishnan; Fakhro, Khalid A; Saraiva, Luís R; Lemos, Manuel C

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.

Selvaraj, Senthil; Rodrigues, Dírcea; Krishnamoorthy, Navaneethakrishnan; Fakhro, Khalid A; Saraiva, Luís R; Lemos, Manuel C.

Afiliación

Selvaraj S; Department of Genetics, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Rodrigues D; Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, 3000-075 Coimbra, Portugal.
Krishnamoorthy N; Department of Genetics, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Fakhro KA; Department of Genetics, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Saraiva LR; Department of Genetic Medicine, Weill Cornell Medical College, Doha P.O. Box 24144, Qatar.
Lemos MC; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha P.O. Box 24144, Qatar.

J Pers Med ; 12(1)2022 Jan 17.

Article en En | MEDLINE | ID: mdl-35055433

Palabras clave

AVPR2; case report; genetics; nephrogenic diabetes insipidus; vasopressin

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Pers Med Año: 2022 Tipo del documento: Article País de afiliación: Qatar