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 original report had multiple neurological symptoms such as postnatal microcephaly, inte...

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Detalles Bibliográficos
Autores principales: Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685/
https://www.ncbi.nlm.nih.gov/pubmed/27129381
http://dx.doi.org/10.1186/s13023-016-0433-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685/
https://www.ncbi.nlm.nih.gov/pubmed/27129381
http://dx.doi.org/10.1186/s13023-016-0433-z

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