Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.
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PMID:38301864
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.
PMID:35792517
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.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
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Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.
PMID:25597510
Congenital spongy degeneration of the brain (van Bogaert - Bertrand) associated with micrencephaly and ponto - cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin).