Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff+6 more
wiley +1 more source
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [PDF]
Scala M+27 more
europepmc +1 more source
A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. [PDF]
Atli EI, Atli E, Yalcintepe S, Gurkan H.
europepmc +1 more source
Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus. [PDF]
Albarella S+7 more
europepmc +1 more source
Subtle spine abnormalities in patients with back pain: fracture vs. congenital anomaly. [PDF]
D Resnick
openalex +1 more source
The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley +1 more source
A new congenital platelet abnormality characterized by spontaneous platelet aggregation, enhanced von Willebrand factor platelet interaction, and the presence of all von Willebrand factor multimers in plasma [PDF]
Alessandra Casonato+7 more
openalex +1 more source