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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. (2022)

First Author: Adamo CS

Attributed to: Unravelling the role of NBAS in skeletal development: towards treatment for NBAS-related human phenotype funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2022.10.010

PubMed Identifier: 36351433

Publication URI: http://europepmc.org/abstract/MED/36351433

Type: Journal Article/Review

Volume: 109

Parent Publication: American journal of human genetics

Issue: 12

ISSN: 0002-9297