FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Elyssa CannaertsAnju ShuklaMensuda HasanhodzicMaaike AlaertsDorien SchepersLut Van LaerKatta M GirishaIva HojsakBart LoeysAline VerstraetenPublished in: BMC medical genetics (2018)
These two new cases expand the list of live-born FLNA mutation-positive males with connective tissue disease from eight to ten, contributing to a better knowledge of the genetic and phenotypic spectrum of FLNA-related disease.