Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome

European Journal of Pediatrics

Volumn 168, Issue 3, 2009, Pages 317-320

  Toromanovic, Alma ^a   Tahirovic, Husref ^a   Milenkovic, Tatjana ^b   Koehler, Katrin ^c   Kind, Barbara ^c   Zdravkovic, Dragan ^b   Hasanhodzic, Mensuda ^a   Huebner, Angela ^c  

^a University Clinical Center   (Bosnia and Herzegovina)

^b Institute of Mother and Child Healthcare of Serbia Dr Vukan upi   (Serbia)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Achalasia; Adrenal insufficiency; Alacrima; Triple A syndrome

Indexed keywords

HYDROCORTISONE;

ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; ARTICLE; BOSNIA AND HERZEGOVINA; CASE REPORT; CELIAC DISEASE; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENDOCRINE FUNCTION TEST; ESOPHAGUS ACHALASIA; FACE DYSMORPHIA; GASTROSCOPY; HETEROZYGOTE; HUMAN; LABORATORY TEST; MALE; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADDISON DISEASE; BALLOON DILATATION; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; FATAL OUTCOME; GENOTYPE; HOMOZYGOTE; HORMONES; HUMANS; HYDROCORTISONE; LACRIMAL APPARATUS DISEASES; MALE; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; PEDIGREE; PHENOTYPE; SYNDROME; TWINS;

EID: 59449090843     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0758-2     Document Type: Article

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