CYP21A2 genetics: When genotype does not fit phenotype.

Sani, Ilaria; Rossodivita, Aurora Natalia; Mariani, Michela; Costella, Alessandra; Molinario, Rossana; Concolino, Paola; Capoluongo, Ettore

Sani, Ilaria; Rossodivita, Aurora Natalia; Mariani, Michela; Costella, Alessandra; Molinario, Rossana; Concolino, Paola; Capoluongo, Ettore.

Afiliação

Sani I; Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
Rossodivita AN; Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
Mariani M; Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
Costella A; Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
Molinario R; Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
Concolino P; Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy. Electronic address: paolaconcolino78@libero.it.
Capoluongo E; Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

Clin Biochem ; 49(6): 524-525, 2016 Apr.

Article em En | MEDLINE | ID: mdl-26209023

Assuntos

Genótipo; Fenótipo; Esteroide 21-Hidroxilase/genética; Humanos; Recém-Nascido; Masculino

Palavras-chave

21-hydroxylase deficiency; CYP21A2-like gene; Congenital adrenal hyperplasia; Genotypephenotype correlation; Prenatal molecular diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Esteroide 21-Hidroxilase / Genótipo Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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