Latest Cornelia de Lange Syndrome Stories
-- CHOPS Syndrome Sheds Light on Key Events in Human Biology -- PHILADELPHIA, March 2, 2015 /PRNewswire-USNewswire/ -- Analyzing a puzzling multisystem disorder in three children,
Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth.
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide.
Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure.
A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function.
-Knowledge May Improve Diagnosis for Children with Cornelia deLange Syndrome- PHILADELPHIA, May 27 /PRNewswire-USNewswire/ -- An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.
- One who brings meat to the table; hence, in some countries, the official title of the grand master or steward of the king's or a nobleman's household.