🆕Newly-described in an infant:
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Exome seq revealed novel compound heterozygous variants in FARSA: P347L & R475Q - in a patient who initially presented neonatal-onset failure to thrive, liver dysfunction, and frequent respiratory infections.
Died at age 28-months of progressive hepatic and respiratory failure.
Died at age 28-months of progressive hepatic and respiratory failure.
Great job in Dx and treating this infant by this team of 🧬disease-detectives from the
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
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