Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the <i>KLHL7</i> gene-Reference-Cited by-同舟云学术

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

Published:2022-10-21 Issue:12 Volume:42 Page:1481-1483
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Horton‐Bell Megan¹^ORCID,Hamilton Sue¹,Keelagher Rebecca¹,Allen Stephanie¹,De Burca Anna²,Ioannou Christos³,Impey Lawrence³,Cilliers Deirdre²

Affiliation:

1. West Midlands Regional Genetics Laboratory Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

2. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

3. Department of Fetal Medicine John Radcliffe Hospital Oxford University Hospitals NHS Foundation Trust Oxford UK

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6249

Reference7 articles.

1. Genomics England PanelAPP.Fetal Anomalies(Version 1.92).2022. Accessed September 23 2022.https://nhsgms‐panelapp.genomicsengland.co.uk/panels/478/v1.92

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. EllardS BapleEL CallawayA et al.ACGS Best Practice Guidelines for Variant Classification in Rare Disease;2020. Accessed September 23 2022.https://www.acgs.uk.com/media/11631/uk‐practice‐guidelines‐for‐variant‐classification‐v4‐01‐2020.pdf

4. Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey