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First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Rouillac C, Aral B, Fouque F, Marchant D, Saudubray JM, Dumez Y, Lindsay G, Abitbol M, Dufier JL, Marsac C, Benelli C. Rouillac C, et al. Among authors: aral b. Prenat Diagn. 1999 Dec;19(12):1160-4. doi: 10.1002/(sici)1097-0223(199912)19:12<1160::aid-pd712>;2-2. Prenat Diagn. 1999. PMID: 10590436
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Courcet JB, et al. Among authors: aral b. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15. Eur J Hum Genet. 2015. PMID: 25315659 Free PMC article.
62 results