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Fetal and Pediatric Pathology Volume 25, 2006 - Issue 4
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MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME

John M. Opitz Pediatrics (Medical Genetics), Pathology, Obstetrics & Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USACorrespondence[email protected]
,
Angelica R. Putnam Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA
,
Jessica M. Comstock Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA
,
Steven Chin Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA
,
Janice L. B. Byrne Obstetrics & Gynecology, University of Utah School of Medicine, Salt Lake City, Utah, USA
,
Anne Kennedy Radiology, University of Utah School of Medicine, Salt Lake City, Utah, USA
,
Maureen J. Frikke Office of the Medical Examiner, Utah State Department of Health, Salt Lake City, Utah, USA
,
Chantal Bernard Pathology, McGill University, Montréal, Québec, Canada
,
Steffen Albrecht Pathology, McGill University, Montréal, Québec, Canada
,
Vazken Der Kaloustian Pediatrics and Human Genetics, McGill University, Montréal Childern's Hospital, Montréal, Québec, Canada
&
Juliana G. Szakacs Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA; Pathology, Harvard Vanguard Medical Associates, Boston, Massachusetts, USA
 show all
Pages 211-231 | Published online: 09 Jul 2009

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Roser Urreizti, Daniel Grinberg & Susanna Balcells. (2019) C syndrome - what do we know and what could the future hold?. Expert Opinion on Orphan Drugs 7:3, pages 91-94.
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Articles from other publishers (14)

Roser Urreizti, Sarah Damanti, Carla Esteve, Héctor Franco-Valls, Laura Castilla-Vallmanya, Raul Tonda, Bru Cormand, Lluïsa Vilageliu, John M. Opitz, Giovanni Neri, Daniel Grinberg & Susana Balcells. (2018) A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports 8:1.
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C. Peña-Padilla, C.R. Marshall, S. Walker, S.W. Scherer, G. Tavares-Macías, G. Razo-Jiménez, L. Bobadilla-Morales, E. Acosta-Fernández, A. Corona-Rivera, R. Mendoza-Londono & J. R. Corona-Rivera. (2017) Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy . Clinical Genetics 91:4, pages 640-646.
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Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, Sílvia Mort-Farre, Neus Roca-Ayats, Julia Ponomarenko, Luca Cozzuto, Carlos Company, Mattia Bosio, Stephan Ossowski, Magda Montfort, Jochen Hecht, Eduardo F. Tizzano, Bru Cormand, Lluïsa Vilageliu, John M. Opitz, Giovanni Neri, Daniel Grinberg & Susana Balcells. (2017) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports 7:1.
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Rabah M. Shawky & Radwa Gamal. (2017) C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. Egyptian Journal of Medical Human Genetics 18:1, pages 93-97.
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Harold ChenHarold Chen. 2017. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 2191 2194 .
Helga V. Toriello, Chelsey Colley & Michael Bamshad. (2016) Update on the Toriello-Carey syndrome. American Journal of Medical Genetics Part A 170:10, pages 2551-2558.
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J.A. Avina Fierro & D.A. Hernandez Avina. (2016) Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism. Egyptian Journal of Medical Human Genetics 17:1, pages 125-129.
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Roser Urreizti, Neus Roca-Ayats, Judith Trepat, Francisco Garcia-Garcia, Alejandro Aleman, Daniela Orteschi, Giuseppe Marangi, Giovanni Neri, John M. Opitz, Joaquin Dopazo, Bru Cormand, Lluïsa Vilageliu, Susana Balcells & Daniel Grinberg. (2016) Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics Part A 170:1, pages 24-31.
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Harold ChenHarold Chen. 2014. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 1 5 .
Pinar Karabagli. (2013) Pathology in metopic synostosis. Child's Nervous System 29:12, pages 2165-2170.
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Rabah M. Shawky & Heba Salah Abd-Elkhalek. (2012) Trigonocephaly and Dandy walker variant in an Egyptian child – Probable mild Opitz trigonocephaly C syndrome. Egyptian Journal of Medical Human Genetics 13:1, pages 115-118.
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Laura Travan, Vanna Pecile, Mariacristina Fertz, Antonella Fabretto, Pierpaolo Brovedani, Sergio Demarini & John M Opitz. (2011) Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. Journal of Medical Case Reports 5:1.
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Sophie Pierron, Christian Richelme, Valérie Triolo, Jean Christophe Mas, Jacques Griffet, Houda Karmous‐Benailly, M. Quere, Tadashi Kaname, Jean‐Claude Lambert & Fabienne Giuliano. (2009) Evolution of a patient with Bohring–Opitz syndrome. American Journal of Medical Genetics Part A 149A:8, pages 1754-1757.
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Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto, Hiroki Maehara, Ichiro Owan, Fuminori Kanaya, Yoshiaki Kubota, Yuichi Oike, Toshiyuki Yamamoto, Kenji Kurosawa, Yoshimitsu Fukushima, Axel Bohring, John M. Opitz, Ko-ichiro Yoshiura, Norio Niikawa & Kenji Naritomi. (2007) Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome. The American Journal of Human Genetics 81:4, pages 835-841.
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