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首页> Genes> Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder.

Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder.

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作者： Ineke,Cordova ^[1] ; Alyssa,Blesson ^[2] ; Juliann M,Savatt ^[1] ; Abigail,Sveden ^[3] ; Sonal,Mahida ^[3] ; Heather,Hazlett ^[4] ; Erin,Rooney Riggs ^[1] ; Maya,Chopra ^[3] ; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel

作者单位： Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA. ^[1] Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA. ^[2] Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA. ^[3] Department of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC 27510, USA. ^[4]

关键词 ASH1L Brain Gene Registry ClinGen GenomeConnect autism spectrum disorder histone methyltransferase intellectual disability neurodevelopmental disorder syndromic complex neurodevelopmental disorder

主题词人类(Humans);表型(Phenotype);男(雄)性(Male);组蛋白赖氨酸N-甲基转移酶(Histone-Lysine N-Methyltransferase);女(雌)性(Female);儿童(Child);基因型(Genotype);DNA结合蛋白质类(DNA-Binding Proteins);转录因子(Transcription Factors);儿童, 学龄前(Child, Preschool);突变(Mutation);青少年(Adolescent)

DOI 10.3390/genes15040423

PMID 38674358

发布时间 2024-07-23

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