Results 221 to 230 of about 219,018 (388)

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

open access: yesClinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova   +3 more
wiley   +1 more source

Acute hepatitis and haemolysis associated with doxycycline and rifampin administration in two weanling foals

open access: yesEquine Veterinary Education, EarlyView.
Summary Two foals were being treated with a combination of oral doxycycline and rifampin for presumed Rhodococcus equi infections. After 3–4 weeks of antimicrobial administration, both foals presented with icterus and nonspecific clinical signs, including lethargy and inappetence.
A. Murdock   +7 more
wiley   +1 more source

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