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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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: 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
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha: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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