Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy

European Journal of Pediatrics

Volumn 170, Issue 3, 2011, Pages 393-396

  Dumić, Miroslav ^a   Barišić, Nina ^a   Rojnić Putarek, Nataša ^a   Kušec, Vesna ^a   Stanimirović, Andrija ^b   Koehler, Katrin ^c   Huebner, Angela ^c  

^a KBC Zagreb   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

AAAS gene mutation; Adrenal insufficiency; Alacrima; Peripheral polyneuropathy; Triple A syndrome

Indexed keywords

HYDROCORTISONE;

ADRENAL CORTEX INSUFFICIENCY; ALLGROVE SYNDROME; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; DEVELOPMENTAL DISORDER; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING;

ADRENAL INSUFFICIENCY; CHILD, PRESCHOOL; ESOPHAGEAL ACHALASIA; FEMALE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; POLYNEUROPATHIES;

EID: 79954450866     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1314-4     Document Type: Article

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