Open AccesseP454: Fetal exome sequencing for recurrent arthrogryposis identifies a potentially causative variant in the TOR1A gene: A case report
Author(s) -
Zenobia Gonsalves,
Lisa Weingarten,
Sara RabinHavt,
Susan Klugman
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.2022.01.487
Subject(s) - arthrogryposis , arthrogryposis multiplex congenita , medicine , exome sequencing , muscle contracture , genetics , bioinformatics , pathology , biology , anatomy , mutation , gene
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