A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Bezen D, Kutlu O, Mouilleron S, Rizzoti K, Dattani M, Guran T, Yeşil G.
Am J Med Genet A. 2022 Sep;188(9):2701-2706. doi: 10.1002/ajmg.a.62888. Epub 2022 Jul 6.
Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.
Dos Santos AS, da Costa MG, Faustino AM, de Almeida W, Danilevicz CK, Peres AM, de Castro Saturnino BC, Varela APM, Teixeira TF, Roehe PM, Krolow R, Dalmaz C, Pereira LO.
Exp Neurol. 2024 Apr;374:114699. doi: 10.1016/j.expneurol.2024.114699. Epub 2024 Jan 30.
Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations.
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM.
J Child Neurol. 2022 Aug;37(8-9):758-783. doi: 10.1177/08830738221100886. Epub 2022 Jun 23.
[Congenital Myasthenic Syndromes].
Ohno K.
Brain Nerve. 2024 Jan;76(1):41-45. doi: 10.11477/mf.1416202556.
[Cerebellar atrophies].
Zuber M, Lamy C, de Recondo J.
Rev Prat. 1990 May 1;40(13):1186-92.
Normal Pressure Hydrocephalus.
Graff-Radford NR, Jones DT.
Continuum (Minneap Minn). 2019 Feb;25(1):165-186. doi: 10.1212/CON.0000000000000689.
Teaching Video NeuroImage: Congenital Hemidystonia-Hemi-midbrain Atrophy Syndrome.
Pillai KS, Thakre M, Asole D, Venkitachalam A, Sundar U, Sankhe AP, Joshi AR, Firke VP.
Neurology. 2022 May 17;98(20):860-861. doi: 10.1212/WNL.0000000000200513. Epub 2022 Mar 29.
[Cerebellar hypoplasias].
Safronova MM, Barbot C, Resende Pereira J.
Acta Med Port. 2010 Sep-Oct;23(5):841-52. Epub 2010 Oct 22.
Fetal brain infections.
Barkovich AJ, Girard N.
Childs Nerv Syst. 2003 Aug;19(7-8):501-7. doi: 10.1007/s00381-003-0763-8. Epub 2003 Jun 19.
Neu Laxova syndrome.
Dwivedi T, Gosavi M.
Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17.
