Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

Chao Kai Hsu, Ryo Saito, Arti Nanda, Ellie Rashidghamat, Hejab Al-Ajmi, Julia Yu Yun Lee, Michihiro Hide, John A. McGrath

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)

摘要

Naevus sebaceus has recently been shown to result from post-zygotic mutations in HRAS, KRAS or occasionally NRAS. We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. This case highlights the clinicopathological and molecular findings of this naevoid disorder as well as the key issues in the clinical assessment and management of such patients.

原文English
頁(從 - 到)58-60
頁數3
期刊Australasian Journal of Dermatology
58
發行號1
DOIs
出版狀態Published - 2017 二月 1

All Science Journal Classification (ASJC) codes

  • Dermatology

指紋 深入研究「Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS」主題。共同形成了獨特的指紋。

引用此