Open AccesseP457: Fetal presentation of pyruvate dehydrogenase complex deficiency diagnosed by prenatal exome sequencing
Author(s) -
Randa Lenker,
J.M. Newton,
Brighton Goodhue,
Arianna Guillard,
Caitlin Mann
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.2022.01.490
Subject(s) - exome sequencing , presentation (obstetrics) , exome , medicine , pyruvate dehydrogenase complex , prenatal diagnosis , fetus , genetics , bioinformatics , biology , pregnancy , obstetrics , mutation , enzyme , biochemistry , gene
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