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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 Verstraeten
Published 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.
Keyphrases
  • case report
  • healthcare
  • genome wide
  • gene expression
  • gestational age