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

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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Bibliographic Details
Main Authors: Jonathan D. J. Labonne, Terri M. Driessen, Marvin E. Harris, Il-Keun Kong, Soumia Brakta, John Theisen, Modibo Sangare, Lawrence C. Layman, Cheol-Hee Kim, Janghoo Lim, Hyung-Goo Kim
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Journal of Clinical Medicine
Subjects:
microdeletion
lrrk2
autism
hdhd1
pnpla4
intellectual disability
parkinsonism
xlid
12q12
xp22.31
Online Access:https://www.mdpi.com/2077-0383/9/1/274

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https://www.mdpi.com/2077-0383/9/1/274

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