In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency (OTCD) is the most common X-linked hereditary disorder of urea cycle disorders that is caused by neonatal hyperammonemia. OTC gene sequence variations are common causes of OTCD. The current study presents a 28-month-old baby girl proband with phenotypical charac...

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Bibliographic Details

Published in:	Applied immunohistochemistry & molecular morphology
Main Authors:	Ozdemir, Yesim, Cag, Murat, Gul, Seref, Yüksel, Zafer, Ergoren, Mahmut C.
Format:	Journal Article
Language:	English
Published:	Wolters Kluwer Health, Inc. All rights reserved 19-10-2021
Online Access:	Get full text
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