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amelogenesis imperfecta (5) 5
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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2014, Volume 9, Issue 1, pp. 84 - 84
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, p. 504
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be... 
Human | Rare diseases | NGS (next generation sequencing) | Skeletal dysplasia | Amelogenesis imperfecta | Genetic research | Dysplasia | Genetic aspects | rare diseases | human | skeletal dysplasia | amelogenesis imperfecta
Journal Article
by Jaureguiberry, Graciana and De La Dure-Molla, Muriel and Parry, David and Quentric, Mickael and Himmerkus, Nina and Koike, Toshiyasu and Poulter, James and Klootwijk, Enriko and Robinette, Steven L and Howie, Alexander J and Patel, Vaksha and Figueres, Marie-Lucile and Stanescu, Horia C and Issler, Naomi and Nicholson, Jeremy K and Bockenhauer, Detlef and Laing, Christopher and Walsh, Stephen B and McCredie, David A and Povey, Sue and Asselin, Audrey and Picard, Arnaud and Coulomb, Aurore and Medlar, Alan J and Bailleul-Forestier, Isabelle and Verloes, Alain and Le Caignec, Cedric and Roussey, Gwenaelle and Guiol, Julien and Isidor, Bertrand and Logan, Clare and Shore, Roger and Johnson, Colin and Inglehearn, Christopher and Al-Bahlani, Suhaila and Schmittbuhl, Matthieu and Clauss, François and Huckert, Mathilde and Laugel, Virginie and Ginglinger, Emmanuelle and Pajarola, Sandra and Spartà, Giuseppina and Bartholdi, Deborah and Rauch, Anita and Addor, Marie-Claude and Yamaguti, Paulo M and Safatle, Heloisa P and Acevedo, Ana Carolina and Martelli-Júnior, Hercílio and Dos Santos Netos, Pedro E and Coletta, Ricardo D and Gruessel, Sandra and Sandmann, Carolin and Ruehmann, Denise and Langman, Craig B and Scheinman, Steven J and Ozdemir-Ozenen, Didem and Hart, Thomas C and Hart, P. Suzanne and Neugebauer, Ute and Schlatter, Eberhard and Houillier, Pascal and Gahl, William A and Vikkula, Miikka and Bloch-Zupan, Agnès and Bleich, Markus and Kitagawa, Hiroshi and Unwin, Robert J and Mighell, Alan and Berdal, Ariane and Kleta, Robert
Nephron - Physiology, ISSN 1660-2137, 04/2013, Volume 122, Issue 1-2, pp. 1 - 6
Journal Article
Molecular Syndromology, ISSN 1661-8769, 12/2014, Volume 5, Issue 6, pp. 293 - 298
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy,... 
Short Report | Mutations | Amelogenesis imperfecta | Leucine zipper domain | Epilepsy | Kohlschütter-Tönz syndrome | ROGDI
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2014, Volume 24, Issue 11, pp. 3038 - 3049
Journal Article
Molecular Syndromology, ISSN 1661-8769, 12/2014, Volume 5, Issue 6, pp. I - IV
  No abstract available 
Further Section
Journal Article
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