Monogenic causes of pigmentary mosaicism
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Published:2022-05-03
Issue:11
Volume:141
Page:1771-1784
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ISSN:0340-6717
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Container-title:Human Genetics
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language:en
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Short-container-title:Hum Genet
Author:
Saida Ken, Chong Pin Fee, Yamaguchi Asuka, Saito Naka, Ikehara Hajime, Koshimizu Eriko, Miyata Rie, Ishiko Akira, Nakamura Kazuyuki, Ohnishi Hidenori, Fujioka Kei, Sakakibara Takafumi, Asada Hideo, Ogawa Kohei, Kudo Kyoko, Ohashi Eri, Kawai Michiko, Abe Yuichi, Tsuchida Naomi, Uchiyama Yuri, Hamanaka Kohei, Fujita Atsushi, Mizuguchi Takeshi, Miyatake Satoko, Miyake Noriko, Kato Mitsuhiro, Kira Ryutaro, Matsumoto NaomichiORCID
Funder
Japan Agency for Medical Research and Development Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference48 articles.
1. Agrawal P, Chen YT, Schilling B, Gibson BW, Hughes RE (2012) Ubiquitin-specific peptidase 9, X-linked (USP9X) modulates activity of mammalian target of rapamycin (mTOR). J Biol Chem 287:21164–21175. https://doi.org/10.1074/jbc.M111.328021 2. Ayadi A, Birling MC, Bottomley J, Bussell J, Fuchs H, Fray M, Gailus-Durner V, Greenaway S, Houghton R, Karp N, Leblanc S, Lengger C, Maier H, Mallon AM, Marschall S, Melvin D, Morgan H, Pavlovic G, Ryder E, Skarnes WC, Selloum M, Ramirez-Solis R, Sorg T, Teboul L, Vasseur L, Walling A, Weaver T, Wells S, White JK, Bradley A, Adams DJ, Steel KP, Hrabe de Angelis M, Brown SD, Herault Y (2012) Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. Mamm Genome 23:600–610. https://doi.org/10.1007/s00335-012-9418-y 3. Barbel P, Brown S, Peterson K (2015) Identification of hypomelanosis of Ito in pediatric primary care. J Pediatr Health Care 29:551–554. https://doi.org/10.1016/j.pedhc.2015.01.002 4. Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Genevieve D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Riviere JB, Kinsler VA, Faivre L, Vabres P, Mosaique PN (2021) Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Genet Med. https://doi.org/10.1038/s41436-021-01161-6 5. Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, Gabriel S, Meyerson M, Lander ES, Getz G (2013) Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 31:213–219. https://doi.org/10.1038/nbt.2514
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