Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in ...

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal ...

A young woman had a facelift aged just 16 to shave years off her appearance due to a rare condition that makes her look decades older than she really is. Since the age of 12, Zara Hartshorn has often ...