Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report
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DOI: 10.12998/wjcc.v10.i4.1417
Abstract: BACKGROUND Ornithine transcarbamylase deficiency (OTCD) is a common ornithine cycle disorder, and OTC gene variation is the main pathogenic factor of this disease. This study explored and validated a variant in the OTC gene. CASE… read more here.
Keywords: ornithine transcarbamylase; gene; case; transcarbamylase deficiency ... See more keywords