A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006213
Abstract: Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the… read more here.
Keywords: deletion; neonatal marfan; frame; novel large ... See more keywords
Comparison of novel large‐bore and conventional‐bore covered self‐expandable metal stents for malignant gastric outlet obstruction: Multicenter, retrospective study
Sign Up to like & getrecommendations! Published in 2022 at "Digestive Endoscopy"
DOI: 10.1111/den.14418
Abstract: Covered self‐expandable metal stent (cSEMS) for gastric outlet obstruction (GOO) has been developed to overcome tumor ingrowth but is prone to be associated with an increased risk of migration. Clinical impact of the novel large‐bore… read more here.
Keywords: outlet obstruction; self expandable; gastric outlet; novel large ... See more keywords