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The <jats:italic>KITLG<\/jats:italic> gene encoding the KIT ligand protein is a disease\u2010causing gene for FPHH. Various disease\u2010causing gain\u2010of\u2010function mutations, which reside within or adjacent to the conserved VTNN motif of this gene, have been described to date. We have now identified a novel <jats:italic>KITLG<\/jats:italic> mutation, c.337G&gt;A (p.Glu113Lys), in FPHH which is located within another ligand\u2010receptor interaction site.<\/jats:p>","DOI":"10.1111\/1346-8138.15313","type":"journal-article","created":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T05:59:41Z","timestamp":1584597581000},"page":"669-672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel mutation in the <i>KITLG<\/i> gene in familial progressive hyperpigmentation with or without hypopigmentation"],"prefix":"10.1111","volume":"47","author":[{"given":"Maki","family":"Kato","sequence":"first","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiko","family":"Yagami","sequence":"additional","affiliation":[{"name":"Departments of Department of Dermatology Fujita Health University School of Medicine Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Tsukamoto","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology Fujita Health University School of Medicine Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuko","family":"Shinkai","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University Toyoake Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takema","family":"Kato","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University Toyoake 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