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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Publicado en:J Clin Med
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2020
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Article
Acceso en línea: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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