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Titel:

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Kurth, Ingo; Baumgartner, Manuela; Schabhüttl, Maria; Tomni, Cecilia; Windhager, Reinhard; Strom, Tim M; Wieland, Thomas; Gremel, Kurt; Auer-Grumbach, Michaela
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...     »
Zeitschriftentitel:
Am J Med Genet B Neuropsychiatr Genet
Jahr:
2016
Band / Volume:
171
Heft / Issue:
6
Seitenangaben Beitrag:
875-8
Sprache:
eng
Volltext / DOI:
doi:10.1002/ajmg.b.32458
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27184211
Print-ISSN:
1552-4841
TUM Einrichtung:
Institut für Humangenetik
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