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Article

Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.

Pigment cell & melanoma research - 1 Mar 2021

Araki Yuta, Okamura Ken, Saito Toru, Matsumoto Kazuhiko, Natsuga Ken, Nishimoto Junko, Funasaka Yoko, Togawa Yaei, Suzuki Tamio

Abstract excerpt

SASH1 has been reported as a causal gene of lentiginous phenotypes with and without heredity, including an autosomal dominant type characterized by lentigines predominantly on sun-exposed areas such as the face and limbs. Recently, cases of dyschromatosis with SASH1 mutations have been reported worldwide; however, only one case has been reported from Japan. Here, we analyzed six Japanese patients who...

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PMID: 32981204
DOI: 10.1111/pcmr.12930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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