Browsing Pharmacy by Subject "disorganization of actin cytoskeletal network, hypomorphic variant, pip2 accumulation, plcb3, spondylometaphyseal dysplasia with corneal dystrophy (smdcd)"
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
(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 ...