Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
Salma Ben-SalemSarah M RobbinsNara Lm SobreiraAngeline LyonAisha M Al-ShamsiBarira K IslamNadia A AkawiAnne JohnPramathan ThachillathSania Al HamedDavid ValleBassam R AliLihadh Al-GazaliPublished in: Journal of medical genetics (2017)
Our results connect a homozygous loss of function variant in PLCB3 with a new SMD associated with corneal dystrophy and developmental delay (SMDCD).