TY  - GEN
AU  - Picker-Minh,Sylvie
AU  - Mignot,Cyril
AU  - Doummar,Diane
AU  - Hashem,Mais
AU  - Faqeih,Eissa
AU  - Josset,Patrice
AU  - Dubern,Béatrice
AU  - Alkuraya,Fowzan S
AU  - Kraemer,Nadine
AU  - Kaindl,Angela M
TI  - Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
SN  - 1750-1172
PY  - 2017///1204
KW  - Carboxylic Ester Hydrolases
KW  - genetics
KW  - Gene Expression Regulation, Enzymologic
KW  - Humans
KW  - Mitochondrial Proteins
KW  - Mutation
KW  - Pancreatic Diseases
KW  - Pedigree
N1  - Publication Type: Letter
UR  - https://doi.org/10.1186/s13023-016-0433-z
ER  -