Work

USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature review

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Dysmorphology

DOI: 10.1097/mcd.0000000000000538

Authors: Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Archana Varghese, Uddhava V. Kinhal, Himani Pandey, Devi Lal

Institutions: Indira Gandhi Institute of Child Health, University of Delhi

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4415979013

FWCI:

Cites: 12

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