1.
Am J Med Genet A
; 137(1): 98-9, 2005 Aug 15.
Article
in English
| MEDLINE
| ID: mdl-16007613
Subject(s)
Abnormalities, Multiple/pathology , Proto-Oncogene Proteins/genetics , Uterus/abnormalities , Vagina/abnormalities , Abnormalities, Multiple/genetics , DNA Mutational Analysis , Female , Genetic Predisposition to Disease/genetics , Humans , Kidney/abnormalities , Polymorphism, Genetic , Promoter Regions, Genetic/genetics , Syndrome , Wnt Proteins , Wnt4 Protein
2.
Dig Dis Sci
; 50(3): 440-2, 2005 Mar.
Article
in English
| MEDLINE
| ID: mdl-15810622
Subject(s)
Adrenal Gland Diseases/diagnosis , Adrenocorticotropic Hormone/deficiency , Esophageal Achalasia/diagnosis , Esophageal Achalasia/etiology , Lacrimal Apparatus Diseases/diagnosis , Adrenal Gland Diseases/complications , Adult , Humans , Lacrimal Apparatus Diseases/complications , Male , Prognosis , Rare Diseases , Syndrome , Tears/metabolism
3.
Mov Disord
; 19(3): 344-6, 2004 Mar.
Article
in English
| MEDLINE
| ID: mdl-15022193
ABSTRACT
We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and widespread digestive dysmotility, involving small bowels and gall bladder. These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome.
