Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

Langdahl, Jakob H; Frederiksen, Anja L; Nguyen, Nina; Brusgaard, Klaus; Juhl, Claus B

Langdahl, Jakob H; Frederiksen, Anja L; Nguyen, Nina; Brusgaard, Klaus; Juhl, Claus B.

Afiliação

Langdahl JH; Dept. of Medicine, Hospital of Southwest Denmark, Denmark; Dept. of Clinical Research, Faculty of Health, University of Southern Denmark, Denmark. Electronic address: jakob.hoegild.langdahl@rsyd.dk.
Frederiksen AL; Dept. of Clinical Genetics, Odense University Hospital, Denmark; Dept. of Clinical Research, Faculty of Health, University of Southern Denmark, Denmark.
Nguyen N; Dept. of Radiology, Odense University Hospital, Denmark.
Brusgaard K; Dept. of Clinical Genetics, Odense University Hospital, Denmark; Dept. of Clinical Research, Faculty of Health, University of Southern Denmark, Denmark.
Juhl CB; Dept. of Medicine, Hospital of Southwest Denmark, Denmark.

Eur J Med Genet ; 60(2): 105-109, 2017 Feb.

Article em En | MEDLINE | ID: mdl-27866050

Assuntos

Hipogonadismo/genética; Fosfolipases/genética; Distrofias Retinianas/genética; Ataxias Espinocerebelares/genética; Adolescente; Adulto; Feminino; Humanos; Hipogonadismo/patologia; Masculino; Pessoa de Meia-Idade; Mutação; Distrofias Retinianas/patologia; Irmãos; Ataxias Espinocerebelares/patologia

Palavras-chave

Genetics; Hypogonadism; PNPLA6 mutation; Phospholipases; Retinal dystrophies; Spinocerebellar ataxias

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfolipases / Ataxias Espinocerebelares / Distrofias Retinianas / Hipogonadismo Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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