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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Jonathan D. J. Labonne (18090841) (author)
مؤلفون آخرون: 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)
منشور في: 2020
الموضوعات:
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