Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.
Altassan R, et al.
Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.
Am J Med Genet A. 2017.
PMID: 28328124
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and …
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder t …