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Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
Haghighi A, Nikuei P, Haghighi-Kakhki H, Saleh-Gohari N, Baghestani S, Krawitz PM, Hecht J, Mundlos S. Haghighi A, et al. Among authors: haghighi kakhki h. Br J Dermatol. 2013 Jun;168(6):1353-6. doi: 10.1111/bjd.12151. Br J Dermatol. 2013. PMID: 23210707 No abstract available.
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Among authors: haghighi kakhki h. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Johnson MB, et al. Among authors: haghighi a. Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Diabetes. 2017. PMID: 28473463 Free PMC article.
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R. Haghighi A, et al. Eur J Hum Genet. 2016 Feb;24(2):243-51. doi: 10.1038/ejhg.2015.78. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966635 Free PMC article.
330 results