Article
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
Journal of medical genetics - 1 Apr 2021
Park Julien H, Ousingsawat Jiraporn, Cabrita Inês, Bettels Ruth E, Große-Onnebrink Jörg, Schmalstieg Christian, Biskup Saskia, Reunert Janine, Rust Stephan, Schreiber Rainer, Kunzelmann Karl, Marquardt Thorsten
Abstract excerpt
INTRODUCTION: TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent episodes of haemorrhagic diarrhoea. In one of them, the episodes were characterised by hepatic pneumatosis with gas bubbles in the portal vein similar to necrotising enterocolitis of the newborn. METHODS: Exome sequencing...
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