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Paper Details

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
2
2022
ENTPD1, ENTPD1 deficiency, ENTPD1 locus, ENTPD1 variants, Ectonucleotidase ENTPD1, G, Gly133Glu, Gly216Glufs, Human, ID, Ile348Phefs, Intellectual Disability, Man, NM 001776, Neurodevelopmental Disorder, Spastic Paraplegia, Tyr49Cys, White Matter Abnormalities, autosomal recessive disease, c, c.1531?, c.185?, c.414-2_414-1del, c.574-6_574-3del, c.770_771del, dysarthria, dysmorphisms, genes, hereditary spastic paraplegia, intellectual disability, neurological disease, nucleotide, progressive spastic paraparesis, progressive spastic paraplegia, spastic paraplegia, white matter abnormalities
Author NameAffiliation
Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Vernon R SuttonBaylor College of Medicine
Vernon R SuttonTexas Children's Hospital
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Zeynep Coban AkdemirBaylor College of Medicine
Zeynep Coban AkdemirSchool of Public Health, University of Texas Health Science Center at Houston
Shalini N JhangianiBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Henry HouldenQueen Square Institute of Neurology, University College London
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
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Release 1.2