Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations
| Autor: | M. Warming Jørgensen, Karl Oliver Kagan, M. Schøler Nørgaard, Olav Bjørn Petersen, J. Pinner, Puk Sandager, V. Gjørup, Ida Vogel, Ritu Mogra |
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| Rok vydání: | 2020 |
| Předmět: |
Genetics
Fetus Radiological and Ultrasound Technology business.industry Costello Syndrome Obstetrics and Gynecology Exons General Medicine medicine.disease Phenotype Proto-Oncogene Proteins p21(ras) Exon Reproductive Medicine Costello syndrome Mutation Mutation (genetic algorithm) Humans Medicine Abnormalities Multiple Radiology Nuclear Medicine and imaging HRAS business |
| Zdroj: | Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : description of phenotype of HRAS exon 1 mutations ', Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281 Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : A description of the phenotype of HRAS exon 1 mutations ', Ultrasound in Obstetrics & Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281 |
| ISSN: | 1469-0705 0960-7692 |
| DOI: | 10.1002/uog.20281 |
| Popis: | This is a description of similar prenatal ultrasound findings in five cases of fetal Costello syndrome from 3 countries. We suggest that Costello syndrome (CS) may be recognizable prenatally, is more prevalent in utero than previously described, and that cases diagnosed prenatally have a more severe phenotype and a high risk of intrauterine death compared with cases diagnosed postnatally. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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