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

Picker-Minh, Sylvie

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. [electronic resource] - Orphanet journal of rare diseases 04 2016 - 52 p. digital

Publication Type: Letter

1750-1172

10.1186/s13023-016-0433-z doi


Carboxylic Ester Hydrolases--genetics
Gene Expression Regulation, Enzymologic
Humans
Mitochondrial Proteins--genetics
Mutation
Pancreatic Diseases--genetics
Pedigree