Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
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
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi A et al.
Journal of the Peripheral Nervous System : Jpns, 2024
A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.
Isa HM et al.
Oman Medical Journal, 2024
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Sharkia R et al.
Genes, 2023
The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan.
Ando M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
Parida P et al.
Brain & Development, 2021
Genetic background of ataxia in children younger than 5 years in Finland.
Ignatius E et al.
Neurology. Genetics, 2020
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