Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. (2021)
Abstract
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Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1002/ajmg.a.62221
PubMed Identifier: 33964184
Publication URI: http://europepmc.org/abstract/MED/33964184
Type: Journal Article/Review
Volume: 185
Parent Publication: American journal of medical genetics. Part A
Issue: 7
ISSN: 1552-4825