Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben-Salem, Sarah M. Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M. Al-Shamsi, Barira K. Islam, Nadia A. Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R. Ali, Lihadh Al-Gazali

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6 Citations (Scopus)

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Medicine & Life Sciences