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

<p dir="ltr">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 wi...

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Bibliographic Details
Main Author: Jonathan D. J. Labonne (18090841) (author)
Other Authors: Terri M. Driessen (10870797) (author), Marvin E. Harris (18090844) (author), Il-Keun Kong (85884) (author), Soumia Brakta (6020921) (author), John Theisen (18090847) (author), Modibo Sangare (18090850) (author), Lawrence C. Layman (13913559) (author), Cheol-Hee Kim (36752) (author), Janghoo Lim (85014) (author), Hyung-Goo Kim (728597) (author)
Published: 2020
Subjects:
Biomedical and clinical sciences
Clinical sciences
Neurosciences
microdeletion
LRRK2
autism
HDHD1
PNPLA4
intellectual disability
parkinsonism
XLID
12q12
Xp22.31
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