Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy - Ben-Salem, S., Robbins, S. M., LM Sobreira, N., Lyon, A., Al-Shamsi, A. M., Islam, B. K., Akawi, N. A., John, A., Thachillath, P., Al Hamed, S., Valle, D., Ali, B. R., Al-Gazali, L. (BMJ Publishing Group, 2018)
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