2 cases of Rubinstein-Taybi syndrome
Scherini, A.; Vegni, M.
Minerva Pediatrica 29(2): 133-137
1977
ISSN/ISBN: 0026-4946 PMID: 846463 Document Number: 116470
Document emailed within 1 workday
Related Documents
Shah, S.B.; Patel, D.N. 1984: Rubinstein Taybi syndrome Indian Pediatrics 21(2): 177-178Jüttnerová, V.; Zizka, J.; Chaloupka, R. 1977: The Rubinstein-Taybi syndrome in a 2-year-old boy Ceskoslovenska Pediatrie 32(3): 156-157
Lysiak, M. 1983: A case of Rubinstein-Taybi syndrome Neurologia i Neurochirurgia Polska 17(4): 511-514
Zwierzchowski, T.J.; Przedborska, A.; Wilmańska, I.; Raczkowski, J.W. 2015: Rubinstein-Taybi Syndrome in a 19-years old boy Neuro Endocrinology Letters 36(5): 417-420
Novák, L.; Cisarik, F. 1981: Dermatoglyphic findings in Rubinstein-Taybi syndrome Bratislavske Lekarske Listy 76(1): 61-66
Bogdănici, C.; Neamţu, N.; Rusu, C. 2001: Ocular signs in Rubinstein-Taybi's syndrome Oftalmologia 53(3): 26-30
Kliment, J. 1989: The Rubinstein-Taybi syndrome. Case report Ceskoslovenska Pediatrie 44(8): 495-496
Muto, R.; Bozzi, V.; Muto, M.; Di Giulio, P.; Lembo, G. 1986: Rubinstein-Taybi syndrome. Description of a case La Radiologia Medica 72(7-8): 584-585
Pogacar, S.; Nora, N.F.; Kemper, T.L. 1973: Neuropathological findings in the rubinstein-taybi syndrome Rhode Island Medical Journal 56(3): 114-121
Moran, R.; Calthorpe, D.; McGoldrick, F.; Fogarty, E.; Dowling, F. 1993: Congenital dislocation of the patella in Rubinstein Taybi syndrome Irish Medical Journal 86(1): 34-35
Cisarik, F.; Kostra, M.; Böhm, A.; Hrivnák, L.; Pallayová, O.; Plenta, I. 1981: Roentgenologic and cardiologic findings in Rubinstein-Taybi syndrome Bratislavske Lekarske Listy 75(6): 693-699
Krauze, M.; Waclawczyk, H.; Marek, J.; Swiszcz, A.; Stoińska, H. 1973: Syndrome of congenital facial and finger anomalies associated with mental deficiency in an infant (Rubinstein-Taybi syndrome) Polski Tygodnik Lekarski 28(49): 1947-1949
Hou, J-Woei. 2005: Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies Acta Paediatrica Taiwanica 46(3): 143-148
Ruiz Moreno, J.A.; Moros Peña, M.; Molina Chica, I.; Rebage Moisés, V.; López Pisón, J.; Baldellou Vázquez, A.; Marco Tello, A. 1998: Rubinstein-Taybi syndrome associated with hypoplasia of an extremity. A report of a neonatal case Anales Espanoles de Pediatria 48(3): 321-324
Besana, R.; Zuccotti, G.; Hangeldian, G.; Sala, R.; Riva, E. 1986: Rubinstein-Taybi syndrome. Description of a clinical case with positive familial inheritance Minerva Pediatrica 38(5-6): 159-164
Mazzone, D.; Milana, A.; Praticò, G.; Reitano, G. 1989: Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn Journal of Perinatal Medicine 17(5): 381-384
Maurer, I.; Regensburger, D.; Bernhard, A. 1991: Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography Journal of Cardiovascular Surgery 32(3): 327-329
Caglayan, A.O.; Lechno, S.; Gumus, H.; Bartsch, O.; Fryns, J.P. 2011: A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes Genetic Counseling 22(4): 341-346
Balci, S.; Ergün, M.Ali.; Yüksel-Konuk, E.Berrin.; Bartsch, O. 2008: Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report Turkish Journal of Pediatrics 50(3): 265-268
Narbay, G.; Meire, F.; Verloes, A.; Casteels, I.; Devos, E. 1996: Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases Bulletin de la Societe Belge d'Ophtalmologie 261: 65-70