Work

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

Year: 2025

Type: article

Source: Clinical Genetics

DOI: 10.1111/cge.70104

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

Institution: Kanagawa Children's Medical Center

Language: English

Topic: Protein Tyrosine Phosphatases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

Awards: G1737366744, G4848157111, Disease mechanism of rare genetic disorders due to intrinsically disordered region (IDR) variants

OpenAlex ID: W4415964144

FWCI:

Cites: 3

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