Titre:
  • Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity.
Auteur:Heinrichs, Claudine; Tsigos, C; De Schepper, Jean; Drews, R; Collu, R; Dugardeyn, Christian; Goyens, Philippe; Ghanem, Ghanem Elias; Bosson, D.; Chrousos, G P
Informations sur la publication:European journal of pediatrics, 154, 3, page (191-196)
Statut de publication:Publié, 1995-03
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adrenal Gland Diseases -- complications
Adrenal Gland Diseases -- genetics
Adrenocorticotropic Hormone -- blood
Adrenocorticotropic Hormone -- genetics
Base Sequence
Child
Child, Preschool
Consanguinity
Esophageal Achalasia -- blood
Esophageal Achalasia -- complications
Family Health
Female
Humans
Hydrocortisone -- deficiency
Hyperpigmentation
Lacrimal Apparatus -- abnormalities
Male
Mineralocorticoids -- blood
Molecular Sequence Data
Receptors, Corticotropin -- genetics
Syndrome
Theophylline -- diagnostic use
Note générale:Journal Article
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0340-6199
info:doi/10.1007/s004310050273
info:scp/0028928870
info:pmid/7758515