Article
Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.
Neonatology - 1 Jan 2018
Judkins Allison J, MacQueen Brianna C, Christensen Robert D, Comstock Jessica, Mao Rong, Flores-Daboub Josue
Abstract excerpt
A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension. Life support was withdrawn at 7 days of life due to multisystem organ failure. Rapid whole exome sequencing revealed novel compound heterozygous mutations in the gene encoding...
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