Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism
- Author
- VANTYGHEM, M. C1 ; FAIVRE-DEFRANCE, F1 ; MARCELLI -TOURVIEILLE, S1 ; FERMON, C1 ; EVRARD, A1 ; BOURDELLE-HEGO, M. F1 ; VIGOUROUX, C2 ; DEFEBVRE, L3 ; DELEMER, B4 ; WEMEAU, J. L1
[1] Endocrinology and Metabolism, Lille University Hospital, Lille, France
[2] INSERM U680, Université Pierre et Marie Curie (UPMC-Paris 6), Faculté de Médecine and Hôpital Tenon, AP-HP, Service de Biochimie et d'Hormonologie, Paris, France
[3] Neurology Departments, Lille University Hospital, Lille, France
[4] Endocrinology and Internal Medicine Department, Reims University Hospital, Reims, France - Source
Clinical endocrinology (Oxford. Print)). 2007, Vol 67, Num 2, pp 247-249, 3 p ; ref : 5 ref
- CODEN
- CLECAP
- ISSN
- 0300-0664
- Scientific domain
- Endocrinology
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Endocrinologie Etude familiale Extrapyramidal syndrome Goitre nodulaire Génétique Hyperaldostéronisme Lipodystrophie Mutation Partiel Primaire Gène LMNA Corticosurrénale pathologie Encéphale pathologie Endocrinopathie Hypercorticisme Peau pathologie Surrénale pathologie Système nerveux central pathologie Système nerveux pathologie Thyroïde pathologie Tissu adipeux pathologie
- Keyword (en)
- Endocrinology Family study Extrapyramidal syndrome Nodular goiter Genetics Hyperaldosteronism Lipodystrophy Mutation Partial Primary Adrenal cortex diseases Cerebral disorder Endocrinopathy Hyperadrenocorticism Skin disease Adrenal gland diseases Central nervous system disease Nervous system diseases Thyroid diseases Adipose tissue disorders
- Keyword (es)
- Endocrinología Estudio familiar Extrapiramidal síndrome Bocio nodular Genética Hiperaldosteronismo Lipodistrofia Mutación Parcial Primario Corticosuprarrenal patología Encéfalo patología Endocrinopatía Hiperadrenocorticismo Piel patología Suprarrenal patología Sistema nervosio central patología Sistema nervioso patología Tiroides patología Tejido adiposo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08J Skin involvement in other diseases. Miscellaneous. General aspects
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21C Thyroid. Thyroid axis (diseases) / 002B21C01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Dermatology Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18923000
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
10.1111/j.1365-2265.2007.02870.x 
https://dx.doi.org/10.1111/j.1365-2265.2007.02870.x
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