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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. (2019)

First Author: Burrage LC

Attributed to: From Microcephaly to Genome Stability, Inflammation and Growth Regulation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2019.01.007

PubMed Identifier: 30773277

Publication URI: http://europepmc.org/abstract/MED/30773277

Type: Journal Article/Review

Volume: 104

Parent Publication: American journal of human genetics

Issue: 3

ISSN: 0002-9297