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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2013, Volume 110, Issue 12, pp. 4667 - 4672
Journal Article
Tidsskrift for den Norske Laegeforening, ISSN 0029-2001, 2015, Volume 135, Issue 18, p. 1632
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2014, Volume 164, Issue 11, pp. 2901 - 2907
We describe an adolescent Peruvian male with marked, aggressive ingrowth of conjunctiva (pterygium‐like) over the cornea associated with keloid formation on... 
keloid | childhood ocular pterygium | camptodactyly | autosomal dominant | Autosomal dominant | Camptodactyly | Keloid | Childhood ocular pterygium | PATIENT | GENETICS & HEREDITY | Keloid - pathology | Humans | Child, Preschool | Male | Fingers - pathology | Pterygium - pathology | Phenotype | Pterygium - surgery | Keloid - diagnosis | Facies | Skin Pigmentation | Toes - pathology | Child | Pterygium - diagnosis | Dysplasia
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2017, Volume 25, Issue 2, pp. S20 - S22
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2017, Volume 25, Issue 2, pp. S16 - S19
Journal Article
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 10/2015, Volume 135, Issue 18, p. 1632
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 825 - 830
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 1148 - 1151
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2007, Volume 2, Issue 7, p. e598
Journal Article