Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.

Autor: Bubshait, Dalal K.1 dkBubshait@iau.edu.sa
Zdroj: Clinical & Experimental Pediatrics. May2023, Vol. 66 Issue 5, p223-225. 3p.
Databáze: Academic Search Ultimate