المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

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المؤلفون: Tanaka AJ; Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA., Cho MT; GeneDx, Gaithersburg, Maryland 20877, USA., Willaert R; GeneDx, Gaithersburg, Maryland 20877, USA., Retterer K; GeneDx, Gaithersburg, Maryland 20877, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA., Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA., Stefans V; Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA., Oishi K; Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Williamson A; Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA., Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, Texas 75230, USA, and Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas 79430, USA., Basinger A; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Barbaro-Dieber T; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Ortega L; Cook Children's Genetics, Fort Worth, Texas 76102, USA., Sorrentino S; Department of Genetics and Metabolism, Valley Children's Hospital, Madera, California 93636, USA., Gabriel MK; Children's Hospital of Los Angeles, Los Angeles, California 90027, USA., Anderson IJ; Department of Genetics, University of Tennessee, Knoxville, Tennessee 37996, USA., Sacoto MJG; GeneDx, Gaithersburg, Maryland 20877, USA., Schnur RE; GeneDx, Gaithersburg, Maryland 20877, USA., Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA.; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Nov 21; Vol. 3 (6). Date of Electronic Publication: 2017 Nov 21 (Print Publication: 2017).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

مواضيع طبية MeSH: Transcription Factors/*genetics , Transcription Factors/*metabolism, Adolescent ; Amino Acid Sequence/genetics ; Ataxia/genetics ; Autistic Disorder/genetics ; Child ; Child, Preschool ; Conserved Sequence/genetics ; Developmental Disabilities/genetics ; Exome ; Female ; Humans ; Infant ; Intellectual Disability ; Male ; Muscle Hypotonia/genetics ; Mutation ; Neurodevelopmental Disorders/genetics ; Prader-Willi Syndrome/genetics ; Exome Sequencing/methods ; Young Adult