spondylometaphyseal dysplasia with corneal dystrophy (smdcd)

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

Journal of Medical Genetics Feb 2018, 55 (2) 122-130; DOI: 10.1136/jmedgenet-2017-104827

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spondylometaphyseal dysplasia with corneal dystrophy (smdcd)