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Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2920574646

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

About this item

Full title

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2024-05, Vol.61 (5), p.411-419

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundCutaneous epidermal nevi are genotypically diverse mosaic disorders. Pathogenic hotspot variants in HRAS, KRAS, and less frequently, NRAS and BRAF may cause isolated keratinocytic epidermal nevi and sebaceous nevi or several different syndromes when associated with extracutaneous anomalies. Therefore, some authors suggest the concept of m...

Alternative Titles

Full title

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2920574646

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2920574646

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg-2023-109306

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