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BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. (2024)

First Author: Miller KA

Attributed to: Congenital Anomalies - Patient-led Functional Genomics funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jmg-2023-109531

PubMed Identifier: 38296633

Publication URI: http://europepmc.org/abstract/MED/38296633

Type: Journal Article/Review

Volume: 61

Parent Publication: Journal of medical genetics

Issue: 5

ISSN: 0022-2593