A case of Costello syndrome diagnosed by trio whole exome sequencing-Reference-Cited by-同舟云学术

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A case of Costello syndrome diagnosed by trio whole exome sequencing

Published:2022-03-07 Issue:6 Volume:42 Page:2498-2501
ISSN:0144-3615
Container-title:Journal of Obstetrics and Gynaecology
language:en
Short-container-title:Journal of Obstetrics and Gynaecology

Author:

McDermott Helen¹,Karkhanis Pallavi²,Doyle Samantha³,Gowda Harsha¹

Affiliation:

1. Neonatal Unit, Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

2. Fetal Medicine Department, Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

3. Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology

Link

https://www.tandfonline.com/doi/pdf/10.1080/01443615.2022.2034764

Reference10 articles.

1. Gripp KW, Rauen KA. 2006. Costello syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. [cited 2020 Jan 01]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1507/

2. Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol

3. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

4. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

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