[Familial hypoglycocorticism syndrome unresponsive to ACTH, achalasia, alacrima, with associated distal neuromyopathy].
Degli Esposti
A
A
Ambrosioni
G
G
Giardina
A
A
Giovannini
G
G
Laghi
M G
MG
Molinari
P P
PP
Salvatori
P
P
Zaniboni
M G
MG
D000324:Adrenocorticotropic Hormone / Q000494:pharmacology*; D000450:Aldosterone / Q000097:blood; D002648:Child; D004361:Drug Tolerance; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency*; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D012083:Renin / Q000097:blood; D013577:Syndrome
D000450:Aldosterone; D000324:Adrenocorticotropic Hormone; D012083:Renin; D006854:Hydrocortisone
Sindrome familiare di ipoglicocorticismo da insensibilità all'ACTH, acalasia, alacrimia, con associate neuromiopatia distale.