[PDF] A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1186/1750-1172-8-126 Corpus ID: 9809389A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder @article{Lahiry2013AMI, title={A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder}, author={P. Lahiry and L. Racacho and J. Wang and John F. Robinson and G. Gloor and C. A. Rupar and V. Siu and D. Bulman and R. Hegele}, journal={Orphanet Journal of Rare Diseases}, year={2013}, volume={8}, pages={126 - 126} } P. Lahiry, L. Racacho, +6 authors R. Hegele Published 2013 Biology, Medicine Orphanet Journal of Rare Diseases BackgroundTo elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and resultsWe identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting early in life, associated with microcephaly, seizures, and psychomotor retardation; based on this, we named the condition… Expand View on Springer ojrd.biomedcentral.com Save to Library Create Alert Cite Launch Research Feed Share This Paper 9 CitationsHighly Influential Citations 1 Background Citations 3 View All Figures, Tables, and Topics from this paper figure 1 table 1 table 1 figure 2 figure 3 figure 4 figure 5 View All 7 Figures & Tables Neurodegenerative Disorders Microcephaly Global developmental delay CNS disorder Seizures chromosome 11q Whole Exome Sequencing Rare Diseases Neuroimaging Name Homozygote Autosomal recessive inheritance Biopolymer Sequencing Serine Proteases Parkinson Disease Nervous system structure TMPRSS4 gene 9 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency 2019 George Lyman Duff Memorial Lecture R. 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