Its architect's daughter has cystic fibrosis—and benefits from a "miracle drug" backed by an agency he's attacking.

The pediatric Endocrinology Service of CHU Ste-Justine, associated with the University of Montreal hospital system, recently completed a pilot project using WES to characterize patients with ...

Diagnosis of prenatal-onset skeletal dysplasias can be accomplished by ultrasound evaluation and confirmed by both molecular testing using invasive procedures and postdelivery radiographs and ...

2009). Several experiments have found that mutant mice of Sox9-overexpression in chondrocytes exhibited chondrodysplasia, which is similar to β-catenin-null mutant mice. Among the two mutant mice ...

Elastin microfibrillar interface proteins (EMILINs) and Multimerins (EMILIN1, EMILIN2, Multimerin1, and Multimerin2) constitute a four member family that in addition to the shared C-terminus gC1q ...

Metaphyseal dysplasia was identified when she was 3 years old. Patient 3 was born by cesarean section due to lack of progression during delivery. She was noted to have sparse hair and very short l ...