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

Detalles Bibliográficos
Autor principal: Bubshait, Dalal K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Pediatric Society 2023
Materias:
Clinical Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167404/
https://www.ncbi.nlm.nih.gov/pubmed/36949636
http://dx.doi.org/10.3345/cep.2022.01074
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author Bubshait, Dalal K.
author_facet Bubshait, Dalal K.
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spelling pubmed-101674042023-05-10 Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings Bubshait, Dalal K. Clin Exp Pediatr Clinical Note Korean Pediatric Society 2023-03-23 /pmc/articles/PMC10167404/ /pubmed/36949636 http://dx.doi.org/10.3345/cep.2022.01074 Text en Copyright © 2023 by The Korean Pediatric Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Note
Bubshait, Dalal K.
Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title_full Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title_fullStr Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title_full_unstemmed Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title_short Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
title_sort novel ptrh2 gene variant causing imnepd (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 saudi siblings
topic Clinical Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167404/
https://www.ncbi.nlm.nih.gov/pubmed/36949636
http://dx.doi.org/10.3345/cep.2022.01074
work_keys_str_mv AT bubshaitdalalk novelptrh2genevariantcausingimnepdinfantileonsetmultisystemneurologicendocrineandpancreaticdiseasein2saudisiblings

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