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Familial Precocious Fetal Abnormal Cortical Sulcation.
Frassoni C, Avagliano L, Inverardi F, Spaccini L, Parazzini C, Rustico MA, Bulfamante G, Righini A. Frassoni C, et al. Neuropediatrics. 2016 Aug;47(4):253-8. doi: 10.1055/s-0036-1583185. Epub 2016 May 13. Neuropediatrics. 2016. PMID: 27177044
Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality unrelated to FGFR3 mutations or related to other not described FGFR3 gene defects. ...
Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality …
A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y. Zhang YW, et al. Mol Genet Genomics. 2021 Jan;296(1):33-40. doi: 10.1007/s00438-020-01726-1. Epub 2020 Sep 18. Mol Genet Genomics. 2021. PMID: 32944789
All of these observations suggested that the missense mutation causes the loss function of OFD1, resulting in SHH signaling impairs and brain development abnormality. In addition, the three patients have Dandy-Walker malformation, macrogyria and tetralogy of …
All of these observations suggested that the missense mutation causes the loss function of OFD1, resulting in SHH signaling impairs and b …
Mega Cisterna Magna (MCM) in a man with frotteurism symptoms - a case report.
Błachut M, Dębski PG, Badura-Brzoza K, Świerzy K, Lew-Starowicz Z. Błachut M, et al. Psychiatr Pol. 2023 Jun 30;57(3):563-575. doi: 10.12740/PP/147726. Epub 2023 Jun 30. Psychiatr Pol. 2023. PMID: 38043073 Free article. English, Polish.
Mega cistera magna (MCM) is a brain development abnormality that occurs in 1% of radiographic images. ...
Mega cistera magna (MCM) is a brain development abnormality that occurs in 1% of radiographic images. ...