A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
Author:
Affiliation:
1. Department of Paediatrics I; Medical University of Innsbruck; Innsbruck Austria
2. Division of Human Genetics; Medical University of Innsbruck; Innsbruck Austria
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12967/fullpdf
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3. The chemorepulsive protein semaphorin 3A and perineuronal net-mediated plasticity;Winter;Neural Plast,2016
4. Sema3A regulates bone-mass accrual through sensory innervations;Fukuda;Nature,2013
5. Biallelic SEMA3A defects cause a novel type of syndromic short stature;Hofmann;Am J Med Genet A,2013
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