Crippa et al. investigated a cohort of patients with a suspected KBG syndrome, who had already been screened for variants within ANKRD11 (OMIM*611192), the main gene associated with this condition. The combination of omic approaches, array-CGH, and WES led to an unexpected finding of pathogenic … See more Leonardi et al. present three new cases carrying a pathogenetic variant in the SETBP1 gene (OMIM 611060), whose missense variants are located in the specific degradation … See more All authors contributed by drafting the work, revising it critically for important intellectual content, and provided approval for publication of the content. See more The complex genetic etiology of the autosomal recessive primary microcephaly (MCPH), a congenital disease characterized by a reduced number of neurons in the developing neocortex, is … See more The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. See more WebOur study confirms that the phenotype of patients with SPG11 and with SPG15 is homogeneous, whereas cases with SPG35 and with SPG48 cases present overlapping …
CRB1-related retinopathy overlapping the ocular phenotype of S ...
WebApr 9, 2024 · The ‘mutator phenotype’ was first described in Drosophila and in bacteria (Liu et al. 2024; Miyake 1960; Plough 1941). In the last two decades, it has been appreciated … WebJul 7, 2016 · This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder. Myosin heavy chain 7 … they\u0027ll never catch us series
DMD Genotypes and Motor Function in Duchenne Muscular …
Webrevise the phenotype definition based on its performance in accurately identifying patients for a phenotype definition; 8) Leverage the results of the computable phenotype … WebJun 20, 2016 · The eIF1 Sui(-) mutations also derepress translation of GCN4 mRNA, indicating impaired ternary complex loading, and this Gcd(-) phenotype is likewise suppressed by eIF1 overexpression or the 17-21 ... WebApr 4, 2024 · Martinelli et al. (2024) reported 15 patients from 13 unrelated families with a clinically heterogeneous but overlapping phenotype associated with heterozygous … they\u0027ll never find your body