Robinow Syndrome News and Research

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First successful correction of limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

15 Feb 2023

Using Whole Exome Sequencing and Carrier Screening Tests for Birth Defects

In this interview, NewsMedical speaks with Rainu Wau from International Maternal and Children’s Hospital, Shanghai, China, about her experience using whole exome sequencing and carrier screening tests.

From BGI Genomics 8 Dec 2022

Bulldogs' screw tails linked to rare inherited syndrome in humans

With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the most popular of domestic dog breeds. Now researchers at the University of California, Davis, School of Veterinary Medicine have found the genetic basis for these dogs' appearance, and linked it to a rare inherited syndrome in humans.

3 Jan 2019

Novel tool predicts genes that cause disease due to production of truncated proteins

Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international team of researchers, including researchers from Baylor College of Medicine, that has developed a new analytical tool to effectively and efficiently predict such candidate genes.

20 Jul 2018