Postzygotic gain-of- function variants in FGFR2 in two patients with hair follicle naevus

Qing Cheng,Fang Yang,Ruzeng Xue,Huijun Wang,Zhimiao Lin

BRITISH JOURNAL OF DERMATOLOGY（2023）

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摘要

Hair follicle naevus (HFN) is a rare benign hamartoma that predominantly affects the face and neck. The genetic basis of HFN remains unclear. We report on two cases of HFN caused by pathozygotic gain-of-function variants in FGFR2.

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