Browsing Pharmacy by Author "Al-Shamsi, A.M."
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, Salma; Robbins, Sarah M.; Sobreira, Nara Lygia Macena; Ali, Bassam R.; Al-Gazali, Lihadh I.; Lyon, A.; Al-Shamsi, A.M.; Islam, B.K.; Akawi, N.A.; John, A.; Thachillath, P.; Al Hamed, S.; Valle, D. (JMDGA., 2021)Background Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. Methods In the present study, we report the clinical and molecular delineation of a new form of syndromic ...