Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome

Hormone Research

Volumn 56, Issue 1-2, 2001, Pages 67-72

  Schmittmann Ohters, Kerstin ^a   Huebner, Angela ^b   Richter Unruh, Annette ^a   Hauffa, Berthold P ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

AAAS gene; Achalasia; Adrenal insufficiency; Alacrima; Nervous system disorder; Triple A syndrome

Indexed keywords

ADRENAL CORTEX FUNCTION; ALLGROVE SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; DISEASE COURSE; ESOPHAGUS ACHALASIA; EXON; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; STOP CODON; TURKEY (REPUBLIC); VOMITING;

ADRENAL INSUFFICIENCY; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 12; ETHNIC GROUPS; EXONS; GASTROINTESTINAL DISEASES; HOMOZYGOTE; HUMANS; LACRIMAL APPARATUS DISEASES; LINKAGE (GENETICS); MALE; NUCLEAR PORE COMPLEX PROTEINS; PEDIGREE; PROTEINS; SYNDROME; TURKEY;

EID: 0035708885     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000048093     Document Type: Article

References (13)

1. Adrenocorticotropin insensitivity syndromes
2. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the keratin gene cluster
3. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
4. Mutant WD-repeat protein in triple A syndrome
5. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
6. Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia
7. Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia
8. Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes
9. Achalasia of the esophagus in childhood: Surgical treatment in 35 cases with special reference to familial cases and glucocorticoid deficiency association
10. Palatopharyngeal incompetence in association with esophageal dysmotility, acquired glucocorticoid deficiency, and deficient tear production
11. A simple salting out procedure for extracting DNA from human nucleated cells
12. Xerostomia in patients with triple A syndrome - A newly recognised finding
13. ACTH resistance syndromes