Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

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作者： Ruqaiah,Altassan ^[1] ; Haya Al,Saud ^[2] ; Tariq Ahmad,Masoodi ^[2] ; Haya Al,Dosssari ^[2] ; Ola,Khalifa ^[1] ; Hamad,Al-Zaidan ^[3] ; Nadia,Sakati ^[1] ; Zuhair,Rhabeeni ^[4] ; Zuhair,Al-Hassnan ^[1] ; Yousef,Binamer ^[1] ; Nadia,Alhashemi ^[1] ; William,Wade ^[4] ; Zayed,Al-Zayed ^[4] ; Moeen,Al-Sayed ^[5] ; Mohamed A,Al-Muhaizea ^[6] ; Brian,Meyer ^[7] ; Mohammad,Al-Owain ^[7] ; Salma M,Wakil ^[1]

作者单位： Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia. ^[1] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[2] Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt. ^[3] College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia. ^[4] Department of Dermatology, King Faisal Specialist. ^[5] Department of Pediatrics, Royal hospital, Muscat, Oman. ^[6] Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[7] Department of Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[8]

关键词 ADHD-attention deficit hyperactivity disorder CIPA-congenital insensitivity to pain with anhidrosis HSAN-hereditary sensory and autonomic neuropathy NGF-nerve growth factor NTRK1-neurotrophic tyrosine kinase receptor type 1