Self-mutilation and mental retardation: Clues to congenital insensitivity to pain with anhidrosis

Journal of Pediatrics

Volumn 144, Issue 2, 2004, Pages 284-

  Zafeiriou, Dimitrios I ^a   Vargiami, Euthymia ^a   Economou, Marina ^a   Gombakis, Nikolaos ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

ANALGESIA (SENSORY DYSFUNCTION); ANAMNESIS; ANHIDROSIS; ARTICLE; AUTOMUTILATION; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 1Q; CONGENITAL ANALGESIA; DIAGNOSTIC PROCEDURE; FEMALE; HUMAN; LABORATORY TEST; MEDICAL EXAMINATION; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; GENETICS; NEUROPATHY;

CHILD; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MENTAL RETARDATION; SELF-INJURIOUS BEHAVIOR;

EID: 3042713933     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(03)00385-8     Document Type: Article

References (2)

1. Toscano E., della Casa R., Mardy S., Gaetaniello L., Sadile F., Indo Y., et al. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (TRKA)-related disorder. Neuropediatrics. 31:2000;39-41
2. Indo Y. Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum Mutat. 18:2001;462-471