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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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