Ehlers-Danlos syndrome (EDS) is a genetic condition present at birth that involves problems with the body’s connective tissues. Connective tissues make up and support how the body is held ...

But researchers have since determined that IC/BPS is a chronic and rather amorphous syndrome with a bunch ... for unknown reasons perhaps linked to genetics or an autoimmune response—are the ...

Van der Woude Syndrome (VWS) is a rare genetic disorder that primarily ... To search for the best healthcare providers for Medical Genetics in Germany, India, Saudi Arabia, Singapore, Slovakia, Spain, ...

Professor Christopher Gillberg has been awarded the prestigious Hilda and… Professor Christopher Gillberg has been awarded the Hilda and Alfred Eriksson Prize for his groundbreaking work in… Discover ...

Summary: Researchers have identified changes in brain connectivity before and after puberty that may explain why some children with chromosome 22q11.2 deletion syndrome are more susceptible to autism ...

Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q ...

“We need to be inclusive; there is a lot we can do to help Down syndrome individuals reach ... “No one should be left behind irrespective of chromosome numbers: end the stereotypes and don ...

The MGL specializes in testing for all forms of neurofibromatoses including NF1, Legius syndrome (SPRED1 disorder), segmental NF, NF-Noonan, spinal NF, Watson syndrome, NF2, and schwannomatosis as ...

I made notes in his medical records, which I revisited a few years later when it was confirmed that DiGeorge syndrome was "located" on the 22nd chromosome (22q11 ... then become more commonly known as ...

2 Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA 3 Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA 4 Department of Human ...

The frequency of this BP4-BP5 deletion (table 1) among patients referred for clinical chromosome hybridisation microarray is similar for both consortia (0.28%). Though the two cohorts were assembled ...