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المؤلفون: Loren D.M. Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A. Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C. Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G. Kranz, Richard Noel, Shashi K. Nagaraj, Robert K. Lark, Daniel S.G. Wechsler, Daniela del Gaudio, Marco L. Leung, Laura G. Hendon, Collette C. Parker, Kelly L. Jones, David B. Goldstein, Vandana Shashi, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Bret L. Bostwick, Lindsay C. Burrage, Shan Chen, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Mashid S. Azamian, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Jing Zhang, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Yong-hui Jiang, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Daniel C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Tiina K. Urv, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matthew T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell'Angelica, Ani Dillon, Katrina M. Dipple, Naghmeh Dorrani, Emilie D. Douine, Ascia Eskin, Brent L. Fogel, Matthew R. Herzog, Hane Lee, Allen Lipson, Sandra K. Loo, Julian A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Eric Vilain, Allison Zheng, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorfer, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, Andrea L. Gropman, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Joy D. Cogan, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Genotype, Biopsy, Infantile systemic hyalinosis, infantile neuroaxonal dystrophy, Biology, Polymorphism, Single Nucleotide, PLA2G6, Article, Frameshift mutation, whole exome sequencing, Infantile neuroaxonal dystrophy, 03 medical and health sciences, symbols.namesake, Rare Diseases, Exome Sequencing, medicine, Humans, Exome, Genetic Predisposition to Disease, Indel, Child, leukoencephalopathy with vanishing white matter, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, Genetics, Sanger sequencing, Whole genome sequencing, Whole Genome Sequencing, Genetic Diseases, Inborn, Infant, medicine.disease, ANTXR2, undiagnosed diseases network, 3. Good health, 030104 developmental biology, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, EIF2B5, symbols, Female, infantile systemic hyalinosis
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المؤلفون: S. H. Subramony, Owen B. Evans, Rae R. Hanson, Collette C. Parker
المصدر: Pediatric Neurology. 6:257-259
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Fasciculation, Myotonia, Developmental Neuroscience, Peripheral nerve, Reaction Time, medicine, Humans, Peripheral Nerves, Diagnostic Errors, Medical diagnosis, Arthrogryposis, Tetany, Electromyography, business.industry, Muscles, Peripheral Nervous System Diseases, Syndrome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Continuous muscle fiber activity, Female, Neurology (clinical), business
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