Marfan syndrome (MFS) is a heritable multisystemic disorder with a spectrum of clinical manifestations primarily linked to variants in the Fibrillin-1 ...
The genetic screening, which will become an integral part of the premarital screening programme from January 2025, involves testing 570 genes and covers over 840 disorders. According to the ...
EDS is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. She pointed to the girl in a wheelchair that she’d painted.