Mutations in Notch signaling pathway members cause developmental phenotypes that affect
the liver, skeleton, heart, eye, face, kidney, and vasculature. Notch associated disorders …

Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder with variable
phenotypic penetrance that was first described in 1969 by Daniel Alagille. Initial diagnosis …

Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is
infrequently recognized by primary providers in the setting of physiologic jaundice …

Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic
variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling …

Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have
been previously reported in about 70% of patients who meet clinical diagnostic criteria. We …

The Alagille Syndrome (AGS) is a heritable disorder affecting the liver and other organs.
Causative dominant mutations in human Jagged 1 have been identified in most AGS …

Background: Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder with
highly variable expressivity, caused by mutations within the Jagged1 (JAG1) gene. Methods …

Abnormal vertebral segmentation (AVS) in man is a relatively common congenital
malformation but cannot be subjected to the scientific analysis that is applied in animal …

Facial appearance can be a significant clue in the initial identification of genetic conditions,
but their low incidence limits exposure during training and inhibits the development of skills …

A segmented body plan is fundamental to all vertebrate species and this bestows both
rigidity and flexibility on the body. Segmentation is initiated through the process of …