Results 131 to 140 of about 8,700 (250)

Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With Anhidrosis

, 2015
Qingli Wang, Shanna Guo, Guangyou Duan, Guifang Xiang, Ying Ying, Yuhao Zhang, Xianwei Zhang   +6 more
openalex   +1 more source

Episodic disorders: channelopathies and beyond. [PDF]

, 2015
Ptáček, Louis J
core   +1 more source

Congenital insensitivity to pain with anhidrosis: A rare entity

, 2020
Anupam Das, Priya Rajbansh, Mamta Yadav, Piyush Kumar   +3 more
openalex   +1 more source

Unexplained oral and extremity ulcerations in an infant

JAAD Case Reports, 2021
Kristen Russomanno, MD, Ashley DiLorenzo, MD, Kara Simpson, MS, Seth Berger, MD, PhD, Kaiane Habeshian, MD   +4 more
doaj   +1 more source

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Journal of Medical Case Reports
Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae.
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan   +9 more
doaj   +1 more source

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain [PDF]

, 2021
Xiaohui Xie, Jianguang Tang, Zhonghua Liu, Shuijiao Peng, Zhuang‐Zhuang Yuan, Heng Gu, Yiqiao Hu, Zhiping Tan   +7 more
openalex   +1 more source

Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Neurosciences, 2012
Dias, Edwin, Charki, Siddu
openaire   +4 more sources

Congenital insensitivity to pain with anyhydrosis: morphological studies of skin and peripheral nerves

The Turkish Journal of Pediatrics, 1989
Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat.
R Eker, M Y Apak, T Erbengi, S Apak, M Ozmen   +4 more
doaj  

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis. [PDF]

Pediatr Int, 2023
Kubota M, Haga N.
europepmc   +1 more source

Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". [PDF]

J Vet Intern Med, 2023
Gutierrez-Quintana R, Christen M, Faller KME, Guevar J, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source