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| Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings |
| Dalal K. Bubshait |
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Clin Exp Pediatr. 2023;66(5):223-225. Published online March 23, 2023 DOI: https://doi.org/10.3345/cep.2022.01074 |
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Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings Clinical and Experimental Pediatrics. 2023;66(5):223-225  The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan Neurological Sciences. 2022;43(3):2133-2136 P.134 Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease: case series and review Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 2018;45(s2):S51-S51 A novel PTRH2 missense mutation causing IMNEPD: a case report Human Genome Variation. 2021;8(1): 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 Brain and Development. 2021;43(2):314-319 Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: Comment on the article by Matsubara et al Arthritis & Rheumatism. 2007;56(6):2099-2101 Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease Gene. 2014;537(1):41-45 MON-255 A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia Journal of the Endocrine Society. 2019;3(Supplement_1): CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness” Journal of the Endocrine Society. 2020;4(6): A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia The Journal of Gene Medicine. 2018;20(4):e3012 |
