Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineou...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Courcet, Jean- Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Alain, Naim, Valeria, Courcet-Degrolard, Emilie, Aubriot-Lorton, Marie- Hélène, Martin, Laurent, Abrid, Jamal Eddin, Thauvin, Christel, Sefiani, Abdelaziz, Vabres, Pierre, Faivre, Laurence
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463501/
https://ncbi.nlm.nih.gov/pubmed/25315659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.213
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