Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2018_145
Reference16 articles.
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2. Balasubramaniam S, Rudduck C, Bennetts B, Peters G, Wilcken B, Ellaway C (2010) Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. Mol Genet Metab 99:34–41
3. Batshaw M, Tuchman M, Summar M, Seminara J (2014) A longitudinal study of urea cycle disorders. Mol Genet Metab 113:127–130
4. Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H (2015) Genotype-phenotype correlations in ornithine transcarbamylase deficiency: a mutation update. J Genet Genomics 42(5):181–194
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