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Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Among authors: al ajmi h. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, Simpson MA, McGrath JA. Takeichi T, et al. Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22. Br J Dermatol. 2017. PMID: 27406236 No abstract available.
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A, Liu L, Al-Ajmi H, Al-Saleh QA, Al-Fadhli S, Anim JT, Ozoemena L, Mellerio JE, McGrath JA. Nanda A, et al. Among authors: al ajmi h. Int J Dermatol. 2018 Sep;57(9):1058-1067. doi: 10.1111/ijd.14099. Epub 2018 Jul 16. Int J Dermatol. 2018. PMID: 30011071
Incontinentia pigmenti in a father and daughter.
Rashidghamat E, Hsu CK, Nanda A, Liu L, Al-Ajmi H, McGrath JA. Rashidghamat E, et al. Among authors: al ajmi h. Br J Dermatol. 2016 Nov;175(5):1059-1060. doi: 10.1111/bjd.14615. Epub 2016 Jul 24. Br J Dermatol. 2016. PMID: 27037530 No abstract available.
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Hsu CK, et al. Among authors: al ajmi h. J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10. J Invest Dermatol. 2017. PMID: 28087452 Free article. No abstract available.
39 results