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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Borck G, et al. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22. Hum Genet. 2011. PMID: 20967465
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: borck g. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Among authors: borck g. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
111 results