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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

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Year: 1998
Type: article
Study design: Observational Study
Source: Nature Genetics
DOI: 10.1038/ng0198-70
Authors: Deborah J. Shears, Humberto J. Vassal, Frances R. Goodman, Rodger W. Palmer, William Reardon, Andrea Superti-Furga, Peter J. Scambler, Robin M. Winter
Institutions: National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University Children's Hospital Zurich
Language: English

Topic: Connective tissue disorders research
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Wellcome Trust
OpenAlex ID: W2004876851
FWCI: 10.64
Cites: 19
Cited by: 312
Related to: 9
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