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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

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

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

Radiography of Chitayat syndrome in an infant male

Autor: Emma StJoseph, Khalid Khan, Seong Hwan Shin, Khalid Mannan

Publikováno v: Radiology Case Reports, Vol 14, Iss 4, Pp 448-451 (2019)
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

Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene

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

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