Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene
- Author
- FAN YANG1 2 ; HANAKI, Keiichi3 ; KINOSHITA, Tomoe1 ; KAWASHIMA, Yuki1 ; NAGAISHI, Jun-Ichi1 ; KANZAKI, Susumu1
[1] Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan
[2] Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China
[3] School of Health Sciences, Faculty of Medicine, Tottori University, Nishi-cho 86, Yonago 683-8503, Japan - Source
European journal of pediatrics. 2009, Vol 168, Num 3, pp 329-331, 3 p ; ref : 10 ref
- CODEN
- EJPEDT
- ISSN
- 0340-6199
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Adrenal hypoplasia congenita, DAX- 1 Hypogonadotropic hypogonadism
- Keyword (fr)
- Age apparition Gène Génétique Hypogonadisme hypogonadotrope Hypoplasie Maladie congénitale Mutation Pédiatrie Surrénale Tardif Endocrinopathie Malformation Pathologie de l'appareil génital Pathologie de l'hypothalamus
- Keyword (en)
- Age of onset Gene Genetics Hypogonadotropic hypogonadism Hypoplasia Congenital disease Mutation Pediatrics Adrenal glands Late Endocrinopathy Malformation Genital diseases Hypothalamic diseases
- Keyword (es)
- Edad aparición Gen Genética Hipogonadismo hipogonadotropo Hipoplasia Enfermedad congénita Mutación Pediatría Suprarrenal Tardío Endocrinopatía Malformación Aparato genital patología Hipotálamo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21A Hypothalamus. Hypophysis. Epiphysis (diseases) / 002B21A01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21089115
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00431-008-0779-x 
https://dx.doi.org/10.1007/s00431-008-0779-x
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