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Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

We report a genomic and phenotypic delineation for two chromosome regions with candidate genes for syndromic intellectual disability at 12q12 and Xp22.31, segregating independently in one family with four affected members. Fine mapping of three affected members, along with six unreported small infor...

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Bibliografiset tiedot
Julkaisussa:J Clin Med
Päätekijät: Labonne, Jonathan D. J., Driessen, Terri M., Harris, Marvin E., Kong, Il-Keun, Brakta, Soumia, Theisen, John, Sangare, Modibo, Layman, Lawrence C., Kim, Cheol-Hee, Lim, Janghoo, Kim, Hyung-Goo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7019335/
https://ncbi.nlm.nih.gov/pubmed/31963867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9010274
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