Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Arrabal, Luisa; Muñoz-Pujol, Gerard; Medina Martínez, Inmaculada; Gort, Laura; García-Villoria, Judit; Roldán, Susana; Tort, Frederic; Ribes, Antonia

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Arrabal, Luisa; Muñoz-Pujol, Gerard; Medina Martínez, Inmaculada; Gort, Laura; García-Villoria, Judit; Roldán, Susana; Tort, Frederic; Ribes, Antonia.

Afiliación

Arrabal L; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Muñoz-Pujol G; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Medina Martínez I; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Gort L; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
García-Villoria J; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Roldán S; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Tort F; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Ribes A; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.

Int J Mol Sci ; 24(15)2023 Aug 01.

Article en En | MEDLINE | ID: mdl-37569695

Asunto(s)

Enfermedades del Sistema Endocrino; Trastornos del Neurodesarrollo; Recién Nacido; Humanos; Sistema Nervioso Central; Trastornos del Neurodesarrollo/genética; Mutación; Red trans-Golgi

Palabras clave

CCDC186 mutations; DCVs; dense-core vesicles; growth hormone deficiency; hypomyelination; low levels of cortisol; low levels of insulin; non-ketotic hypoglycemia; seizures

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades del Sistema Endocrino / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Newborn Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: España

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