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Original Article
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
- Correspondence to Professor Lihadh Al-Gazali, Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University Al-Ain, United Arab Emirates; l.algazali{at}uaeu.ac.ae
Citation
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Publication history
- Received May 30, 2017
- Revised September 19, 2017
- Accepted October 6, 2017
- First published November 9, 2017.
Online issue publication
January 23, 2018
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