Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.

Samir BouaskerNisha PatelRebecca GreenleesDiana WellesleyLucas Fares TaieNaif A AlmontashiriJúlia BaptistaMalak Ali AlghamdiSarah BoisselJelena MartinovicIvan ProkudinSamantha HoldenHardeep-Singh MudharLisa G RileyChristina NassifTania Attie-BitachMarguerite MiguetMarion DelousSylvain ErnestJulie PlaisanciéPatrick CalvasJean-Michel RozetArif O KhanFadi F HamdanRobyn V JamiesonFowzan Sami AlkurayaJacques L MichaudNicolas Chassaing

Published in: Journal of medical genetics (2022)

Our findings indicate that defective WNT7B function underlies a form of lung hypoplasia that is associated with the PDAC syndrome, and provide evidence for involvement of the WNT-β-catenin pathway in human lung, tracheal, ocular, cardiac, and renal development.

Keyphrases

cell proliferation
stem cells
left ventricular
copy number
gene expression
atrial fibrillation
optical coherence tomography
optic nerve