Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.

Siviero-Miachon, Adriana A; Kizys, Marina M L; Ribeiro, Manuela M; Garcia, Fabiola Esgrignoli; Spinola-Castro, Angela M; Dias da Silva, Magnus R

Siviero-Miachon, Adriana A; Kizys, Marina M L; Ribeiro, Manuela M; Garcia, Fabiola Esgrignoli; Spinola-Castro, Angela M; Dias da Silva, Magnus R.

Afiliação

Siviero-Miachon AA; a Division of Pediatric Endocrinology, Department of Pediatrics , Federal University of Sao Paulo - UNIFESP/EPM , Sao Paulo , Brazil.
Kizys MM; b Laboratory of Molecular and Translational Endocrinology, Department of Medicine , Federal University of Sao Paulo , Sao Paulo , Brazil.
Ribeiro MM; a Division of Pediatric Endocrinology, Department of Pediatrics , Federal University of Sao Paulo - UNIFESP/EPM , Sao Paulo , Brazil.
Garcia FE; a Division of Pediatric Endocrinology, Department of Pediatrics , Federal University of Sao Paulo - UNIFESP/EPM , Sao Paulo , Brazil.
Spinola-Castro AM; a Division of Pediatric Endocrinology, Department of Pediatrics , Federal University of Sao Paulo - UNIFESP/EPM , Sao Paulo , Brazil.
Dias da Silva MR; b Laboratory of Molecular and Translational Endocrinology, Department of Medicine , Federal University of Sao Paulo , Sao Paulo , Brazil.

Endocr Res ; 42(2): 117-124, 2017 May.

Article em En | MEDLINE | ID: mdl-27532428

Assuntos

Puberdade Precoce/genética; Receptores do LH/genética; Adolescente; Brasil; Criança; Humanos; Masculino; Mutação; Irmãos

Palavras-chave

In silico analysis; LH; luteinizing hormone; precocious; puberty; receptors

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Receptores do LH Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En Revista: Endocr Res Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil

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