Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.-论文-万方医学网

作者： Eva Albertsen,Malt ^[1] ; Katalin,Juhasz ^[2] ; Anna,Frengen ^[1] ; Teresia,Wangensteen ^[2] ; Nina Merete,Emilsen ^[3] ; Borre,Hansen ^[4] ; Oleg,Agafonov ^[1] ; Hilde Loge,Nilsen ^[1]

作者单位： Department of Adult Habilitation, Akershus University Hospital, Lorenskog, Norway. ^[1] Campus Ahus, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. ^[2] Section for Clinical Molecular Biology, Akershus University Hospital, Lorenskog, Norway. ^[3] Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. ^[4] Bioinformatics Core Facility, Department of Core Facilities, Institute of Cancer Research, Radium Hospital, Part of Oslo University Hospital, Oslo, Norway. ^[5]

主题词青少年(Adolescent);成年人(Adult);等位基因(Alleles);孤独性障碍(Autistic Disorder);儿童(Child);儿童, 学龄前(Child, Preschool);染色体结构(Chromosome Structures);染色体, 人, 3对(Chromosomes, Human, Pair 3);纤毛(Cilia);DNA拷贝数变异(DNA Copy Number Variations);发育障碍(Developmental Disabilities);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);婴儿(Infant);男(雄)性(Male);表型(Phenotype);精神分裂症(Schizophrenia);序列缺失(Sequence Deletion);青年人(Young Adult)

DOI 10.1002/mgg3.889

PMID 31347308

发布时间 2021-01-10

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Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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