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Article

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Clinical genetics - 1 Mar 2026

Kuroda Yukiko, Yokosuka Tomoko, Nagai Koki, Kawai Yasuhiro, Naruto Takuya, Kurosawa Kenji

Abstract excerpt

A homozygous LZTR1 frameshift variant resulting from maternal uniparental disomy of chromosome 22 [UPD(22)] is associated with bone marrow failure and dysmorphic features distinct from those of Noonan syndrome. Biallelic LZTR1 variants lacking the second BTB domain may underlie a rare clinical phenotype characterized by bone marrow failure.

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Source

Identifiers

PMID: 41196194
DOI: 10.1111/cge.70104

Genes

LZTR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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