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Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity.

par Heinrichs, Claudine ;Tsigos, C;De Schepper, Jean;Drews, R;Collu, R;Dugardeyn, Christian;Goyens, Philippe ;Ghanem, Ghanem Elias ;Bosson, D.;Chrousos, G P
Référence European journal of pediatrics, 154, 3, page (191-196)
Publication Publié, 1995-03

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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