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

BACKGROUND: Genetic risk variants in the hemizygous allele may influence neuropsychiatric manifestations and clinical course in 3q29 deletion carriers. METHODS: In‐depth phenotypic assessment in two deletion carriers included medical records, medical, genetic, psychiatric and neuropsychological eval...

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Publicat a:Mol Genet Genomic Med
Autors principals: Malt, Eva Albertsen, Juhasz, Katalin, Frengen, Anna, Wangensteen, Teresia, Emilsen, Nina Merete, Hansen, Borre, Agafonov, Oleg, Nilsen, Hilde Loge
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732294/
https://ncbi.nlm.nih.gov/pubmed/31347308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.889
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