Paper Details

Paper Title

Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

Paper Journal Title

Am J Med Genet A

Paper Citation Count

Paper Publication Year

2021

Bio Mention

KDELR2 missense, KDELR2 missense variants, bi, neurodevelopmental features, osteogenesis imperfecta

Mesh Descriptor

Author Name	Affiliation
Vernon R Sutton	Baylor College of Medicine
Vernon R Sutton	Texas Children's Hospital
Shalini N Jhangiani	Baylor College of Medicine
Shalini N Jhangiani	University of Texas Health Science Center at Houston
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	University of Texas Health Science Center at Houston
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	University of Texas Health Science Center at Houston
Jennifer E Posey	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
Henry Houlden	Queen Square Institute of Neurology, University College London

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