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Document type:
journal article 
Author(s):
Kurth, Ingo; Baumgartner, Manuela; Schabhüttl, Maria; Tomni, Cecilia; Windhager, Reinhard; Strom, Tim M; Wieland, Thomas; Gremel, Kurt; Auer-Grumbach, Michaela 
Title:
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. 
Abstract:
Congenital insensitivity to pain and anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by recurrent episodes of unexplained high fever, loss of pain perception and temperature sensation, absent sweating, repeated traumatic and thermal injuries, and mild mental retardation. After exclusion of obviously pathogenic mutations in NTRK1, the most common cause of CIPA, whole exome sequencing (WES) was carried out in a CIPA patient with unre...    »
 
Journal title abbreviation:
Am J Med Genet B Neuropsychiatr Genet 
Year:
2016 
Journal volume:
171 
Journal issue:
Pages contribution:
875-8 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
1552-4841 
TUM Institution:
Institut für Humangenetik