Associated Papers
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.
Sharkia R et al.
Genes, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases.
Berling E et al.
Neurology. Genetics, 2024
Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.
Bubshait DK
Clinical and Experimental Pediatrics, 2023
36949636 (PubMed )
Supplement: cep-2022-01074-Supplementary-1.pdf
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