KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>.

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第一作者： Robert,Kleyner

第一单位： Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

作者： Robert,Kleyner ^[1] ; Janet,Malcolmson ^[2] ; David,Tegay ^[1] ; Kenneth,Ward ^[3] ; Annette,Maughan ^[4] ; Glenn,Maughan ^[5] ; Lesa,Nelson ^[3] ; Kai,Wang ^[6] ; Reid,Robison ^[7] ; Gholson J,Lyon ^[8]

作者单位： Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA. ^[1] Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Genetic Counseling Graduate Program, Long Island University (LIU), Brookville, New York 11548, USA. ^[2] Affiliated Genetics, Inc., Salt Lake City, Utah 84109, USA. ^[3] Epilepsy Association of Utah, West Jordan, Utah 84088, USA. ^[4] KBG Syndrome Foundation, West Jordan, Utah 84088, USA. ^[5] Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California 90089, USA;; Department of Psychiatry & Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA. ^[6] Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA. ^[7] Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA. ^[8]

关键词 absent speech autism bilateral single transverse palmar creases broad nasal tip clinodactyly of the 5th finger developmental regression generalized tonic–clonic seizures on awakening intellectual disability, moderate low CSF 5-methyltetrahydrofolate pes planus short philtrum short toe

主题词畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);骨疾病, 发育性(Bone Diseases, Developmental);染色体缺失(Chromosome Deletion);染色体, 人, 16对(Chromosomes, Human, Pair 16);面容(Facies);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);核苷酸类(Nucleotides);系谱(Pedigree);表型(Phenotype);阻遏蛋白质类(Repressor Proteins);牙畸形(Tooth Abnormalities)

DOI 10.1101/mcs.a001131

PMID 27900361

发布时间 2022-12-07

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Cold Spring Harbor molecular case studies

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KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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KBG syndrome involving a single-nucleotide duplication in <i>ANKRD11</i>.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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