A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Autor: Isa HM; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain.; Pediatric Department, Arabian Gulf University, Manama, Bahrain., Khalaf SD; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain., Janahi S; Pediatric Department, Arabian Gulf University, Manama, Bahrain., Naser MM; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain., Al Hamad N; Pediatric Department, Arabian Gulf University, Manama, Bahrain., Alhaddar H; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain., Busehail M; Pediatric Department, Salmaniya Medical Complex, Manama, Bahrain.; Pediatric Department, Arabian Gulf University, Manama, Bahrain.

Publikováno v: Oman medical journal [Oman Med J] 2024 Jan 31; Vol. 39 (1), pp. e599. Date of Electronic Publication: 2024 Jan 31 (Print Publication: 2024).