Open AccesseP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance
Author(s) -
Laura L. Thompson,
Emily Thoreson,
Daniel Groepper,
Laura Train,
Mélanie Meyer,
Heather Glessner,
Julie Fleischer,
Linda Hasadsri,
Linnea M. Baudhuin
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.442
Subject(s) - beckwith–wiedemann syndrome , penetrance , macroglossia , genetics , epigenetics , imprinting (psychology) , biology , dna methylation , sotos syndrome , genomic imprinting , sanger sequencing , bioinformatics , medicine , gene , mutation , phenotype , pathology , gene expression , tongue
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