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Quoted phrase not found in phrase index: "Cerebellar atrophy, visual impairment, and psychomotor retardation;"
Page 1
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R. Geetha TS, et al. Mol Genet Genomic Med. 2018 Mar;6(2):282-287. doi: 10.1002/mgg3.352. Epub 2017 Dec 22. Mol Genet Genomic Med. 2018. PMID: 29271071 Free PMC article.
BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented w …
BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardati …
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P, Paderova K, Benes V Jr, Sistermans EA. Seeman P, et al. Int J Mol Med. 2002 Feb;9(2):125-9. Int J Mol Med. 2002. PMID: 11786921
Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks. White matter abn …
Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor …
Marinesco-Sjögren syndrome: report of one case.
Chou YH, Lin MY, Wang PJ, Wang TR, Shen YZ. Chou YH, et al. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 May-Jun;33(3):212-7. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992. PMID: 1514415
Bilateral visual impairment proved to be congenital cataract. Speech was limited to a few words. The parents were consanguineous, and there are two similarly affected siblings. The brain computed tomography revealed cerebellar atrophy. The evoked poten …
Bilateral visual impairment proved to be congenital cataract. Speech was limited to a few words. The parents were consanguineo …
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Zelnik N, Dobyns WB, Forem SL, Kolodny EH. Zelnik N, et al. Neuroradiology. 1996 Oct;38(7):684-7. doi: 10.1007/s002340050334. Neuroradiology. 1996. PMID: 8912329
We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The clinical features consisted of progressive microcephaly, central hypotonia, visual impairment, abnormal eye movements and dela …
We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The …