Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Autor: Dominic J. McMullan, Stephanie Allen, Julie Vogt, Fiona S. Togneri, E Quinlan-Jones, Lisa Reali, Mark D. Kilby, Malgorzata Drozniewska

Publikováno v: Clinical Case Reports, Vol 8, Iss 3, Pp 508-511 (2020)
Clinical Case Reports

Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prena

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2139528bd73700f0b7ae7151e6c8c638
https://doi.org/10.1002/ccr3.2509

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Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.

Autor: Marszałek-Kruk BA; Department of Genetics, Wroclaw University of Environmental and Life Sciences, 51-631 Wroclaw, Poland., Myśliwiec A; Laboratory of Physiotherapy and Physioprevention, Institute of Physiotherapy and Health Sciences, Academy of Physical Education in Katowice, 40-065 Katowice, Poland., Lipowicz A; Department of Anthropology, Faculty of Biology and Animal Science, Wroclaw University of Environmental and Life Sciences, 50-375 Wroclaw, Poland., Wolański W; Department of Biomechatronics, Faculty of Biomedical Engineering, Silesian University of Technology, 41-800 Zabrze, Poland., Kulesa-Mrowiecka M; Department of Rehabilitation in Internal Diseases, Faculty of Health Sciences, Jagiellonian University Medical College, 31-126 Krakow, Poland., Dowgierd K; Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, Collegium Medicum, University of Warmia and Mazury, 10-561 Olsztyn, Poland.

Publikováno v: Genes [Genes (Basel)] 2023 Dec 24; Vol. 15 (1). Date of Electronic Publication: 2023 Dec 24.