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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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