Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Chitayat syndrome"'
Autor:
Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah
Publikováno v:
American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735
Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20109ad4f9ebdba4773c8c0b0a24f93
https://doi.org/10.1002/ajmg.a.61735
https://doi.org/10.1002/ajmg.a.61735
Publikováno v:
Radiology Case Reports, Vol 14, Iss 4, Pp 448-451 (2019)
Radiology Case Reports
Radiology Case Reports
Chitayat syndrome is a rare genetic syndrome characterised by bilateral hyperphalangism, bronchomalacia, hallux valgus, and other facial dysmorphism including large anterior fontanelle, hypertelorism, and anteverted nostrils. Since the initial discov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3a22257118145071eeba598d4cf690
https://doi.org/10.1016/j.radcr.2019.01.003
https://doi.org/10.1016/j.radcr.2019.01.003
Autor:
Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Juan F Ahumada-Pérez
Publikováno v:
American Journal of Medical Genetics Part A. 179:118-122
Chitayat syndrome (CHYTS, MIM #617180) is a rare autosomal dominant clinical condition caused by a single missense pathogenic variant in the ERF gene (19q13.2, MIM*611888), which encodes the ETS2 Repressor Factor (ERF) protein. The characteristic fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af33f47156d20c4ecf8f23f30b9649fc
https://doi.org/10.1002/ajmg.a.60676
https://doi.org/10.1002/ajmg.a.60676
Publikováno v:
Genetic Syndromes ISBN: 9783319668161
Genetic Syndromes
Genetic Syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbf3f74486d78dc6491a6347830ea427
https://doi.org/10.1007/978-3-319-66816-1_92-1
https://doi.org/10.1007/978-3-319-66816-1_92-1
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Akademický článek
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Autor:
Suter, Aude���Annick, Santos���Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos���Mejia, Rosario, Heath, Karen E., Huckstadt, Victoria, Parr��n���Pajares, Manuel, Mensah, Martin Atta, H��lsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja
Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0cfe9e027f9fcbf211914db15baf9f8
Autor:
Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Lord H; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., Levesque S; Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada., Guturu H; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Thuriot F; Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada., Sillon G; Department of Medical Genetics, McGill University Health Center, Montreal, Quebec, Canada., Wenger AM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Sureka DL; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Lester T; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., Johnson DS; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Bowen J; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Calhoun AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Viskochil DH; School of Medicine, Pediatric Genetics, Salt Lake City, Utah, USA., Bejerano G; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Department of Computer Science, Stanford University, Stanford, California, USA.; Department of Developmental Biology, Stanford University, Stanford, California, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada.; Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children; University of Toronto, Toronto, Ontario, Canada.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Mar; Vol. 54 (3), pp. 157-165. Date of Electronic Publication: 2016 Oct 13.