New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

Jalal GharesouranHassan HosseinzadehSoudeh Ghafouri-FardYalda Jabbari MoghadamJavad Ahmadian HerisAmir Hossein Jafari-RouhiMohammad TaheriMaryam Rezazadeh

Published in: Orphanet journal of rare diseases (2021)

We underlined the probable roles and functions of the involved domain of fibulin-5 and proposed some possible mechanisms involved in AR form of FBLN5-related CL. However, further functional studies and subsequent clinical and molecular investigations are needed to confirm our findings.

Keyphrases

single cell
single molecule