To determine the genetic basis for congenital total white cataract with microcornea in three affected siblings.
We also provide substantial evidence for the congenital (rather than acquired) basis of this unusual condition and discuss, using modern clinical data, possible intra vitam complications.
An inherited basis for congenital extrahepatic portosystemic shunts (EHPSS) has been demonstrated in several small dog breeds.
Additionally, understanding the molecular basis for congenital ALL may lead to novel insights into leukemogenesis and new cancer predisposition syndromes.
These findings will be important to understand the basis of congenital heart defects and to derive cardiac regeneration strategies.
Partial or complete agenesis of the hemidiaphragm is a rare congenital malformation whose embryological basis is unknown.
In analogy to therapy-related MDS of adults, children and adolescents can develop secondary MDS and MDR-AML on the basis of congenital bone marrow failure syndromes.
Having a well-defined understanding of the developmental origins of patterned organs is critical for the development of regenerative strategies, and for our understanding of the basis of congenital malformations.
In recent years, with advances in molecular biology techniques such as deep sequencing and genome-wide microRNA (miRNA) profiling, there has been a growing trend in studying the genetic basis of congenital heart defect and in identifying suitable biomarkers for their diagnosis.
However, advances have recently been made in elucidating the underlying molecular genetic basis of inherited congenital cataract [ 2, 3].
