Growth hormone deficiency in a child with benign hereditary chorea caused by a <i>de novo</i> mutation of the TITF1/NKX2-1 gene.

Trevisani, Viola; Predieri, Barbara; Madeo, Simona Filomena; Fusco, Carlo; Garavelli, Livia; Caraffi, Stefano; Iughetti, Lorenzo

Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.

Trevisani, Viola; Predieri, Barbara; Madeo, Simona Filomena; Fusco, Carlo; Garavelli, Livia; Caraffi, Stefano; Iughetti, Lorenzo.

Afiliação

Trevisani V; Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Predieri B; Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Madeo SF; Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Fusco C; Department of Medical and Surgical Sciences of the Mothers, Pediatric Unit, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
Garavelli L; Department of Pediatrics, Child Neurology Unit and Pediatric Neurophysiology Laboratory, Azienda USL-IRCCS, Reggio Emilia, Italy.
Caraffi S; Mother and Child Health Department, Medical Genetics Unit, Azienda USL-IRCCS, Reggio Emilia, Italy.
Iughetti L; Mother and Child Health Department, Medical Genetics Unit, Azienda USL-IRCCS, Reggio Emilia, Italy.

J Pediatr Endocrinol Metab ; 35(3): 411-415, 2022 Mar 28.

Article em En | MEDLINE | ID: mdl-34710315

Assuntos

Coreia; Hipotireoidismo Congênito; Criança; Coreia/complicações; Coreia/genética; Hipotireoidismo Congênito/genética; Hormônio do Crescimento/genética; Humanos; Mutação; Proteínas Nucleares/genética; Fator Nuclear 1 de Tireoide/genética; Fatores de Transcrição/genética

Palavras-chave

Benign hereditary chorea; growth hormone deficiency; hypothyroidism

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coreia / Hipotireoidismo Congênito Limite: Child / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

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