Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the...

Source: Orphanet Journal of Rare Diseases - April 29, 2016 Category: Internal Medicine Authors: Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer and Angela M. Kaindl Source Type: research