Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
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| Description | scientific article published on 9 November 2017 |
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author: Sarah M Robbins Salma Ben Salem |
| Publication date | November 9, 2017 |
| Language | English |
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