Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.

Kremer Hovinga, Idske C L; Giltay, Jacques C; van der Crabben, Saskia N; Steyls, Anja; van der Kamp, Hetty J; Paulussen, Aimee D C

Kremer Hovinga, Idske C L; Giltay, Jacques C; van der Crabben, Saskia N; Steyls, Anja; van der Kamp, Hetty J; Paulussen, Aimee D C.

Afiliação

Kremer Hovinga ICL; Department of Pediatric Endocrinology, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Giltay JC; Department of Genetics, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
van der Crabben SN; Department of Genetics, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Steyls A; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.
van der Kamp HJ; Department of Pediatric Endocrinology, Wilhelmina Children's hospital/University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.

Clin Endocrinol (Oxf) ; 89(3): 378-380, 2018 09.

Article em En | MEDLINE | ID: mdl-29876959

Assuntos

Hipopituitarismo/genética; Mutação/genética; Proteínas Nucleares/genética; Polidactilia/genética; Proteína Gli2 com Dedos de Zinco/genética; Criança; Feminino; Genótipo; Humanos; Masculino; Fenótipo

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas Nucleares / Polidactilia / Proteína Gli2 com Dedos de Zinco / Hipopituitarismo / Mutação Limite: Child / Female / Humans / Male Idioma: En Revista: Clin Endocrinol (Oxf) Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

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