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Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.
Am J Med Genet A. 2015 Apr;167A(4):826-30. doi: 10.1002/ajmg.a.36961. Epub 2015 Mar 9.
Am J Med Genet A. 2015.
PMID: 25758335
Visual Diagnosis: Exophytic Lesions on Tongue and Oral Mucosa.
Anisowicz SK, McIver H, Pedersen AM.
Anisowicz SK, et al.
Pediatr Rev. 2018 Sep;39(9):e43-e46. doi: 10.1542/pir.2017-0184.
Pediatr Rev. 2018.
PMID: 30171063
No abstract available.
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