Publications by authors named "Sorin Iurian"
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Am J Med Genet A
March 2018
Article Synopsis
- - The cutis laxa syndromes are a group of disorders characterized by loose, wrinkled skin and involve various genetic mutations related to elastic fiber formation.
- - This report focuses on three patients with a specific rare disorder known as Lenz-Majewski syndrome (LMS), marked by unique symptoms like facial dysmorphism, severe growth retardation, and intellectual disability, linked to mutations in the PTDSS1 gene.
- - The study highlights LMS as a clear example of a cutis laxa syndrome and notes distinctive early signs such as brachydactyly, emphasizing the need for further research on the connection between the PTDSS1 gene and the body's extracellular matrix structure.