Work

151 Complex phenotypes in trichothiodystrophy patients with XPD (ERCC2) mutations

Year: 2021

Type: article

Study design: Case Report

Source: Journal of Investigative Dermatology

DOI: 10.1016/j.jid.2021.02.171

Authors: J. Jeskey, E.H. Rizza, M. Sarihan, S.G. Khan, J. Boyle, D. Tamura, N. Mendelsohn, B.P. Brooks, M. Merideth, J.J. DiGiovanna, K.H. Kraemer

Institutions: National Institutes of Health, University of Arizona, Children's Minnesota, National Eye Institute, National Human Genome Research Institute

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W3153238758

FWCI:

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