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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

Authors

  1. 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
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Citation

Ben-Salem S, Robbins SM, LM Sobreira N, et al
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Publication history

  • Received 30 May 2017
  • Revised 19 September 2017
  • Accepted 6 October 2017
  • Published online 9 November 2017.

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