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Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A. Crawford PJ, et al. Orphanet J Rare Dis. 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. Orphanet J Rare Dis. 2007. PMID: 17408482 Free PMC article. Review.
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Parry DA, et al. Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200525 Free PMC article.
Otodental syndrome.
Bloch-Zupan A, Goodman JR. Bloch-Zupan A, et al. Orphanet J Rare Dis. 2006 Mar 21;1:5. doi: 10.1186/1750-1172-1-5. Orphanet J Rare Dis. 2006. PMID: 16722606 Free PMC article. Review.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A. Huckert M, et al. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10. Hum Mol Genet. 2015. PMID: 25669657 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: bloch zupan a. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
83 results