A CELSR1 variant in a patient with pulmonary arterial hypertension

Clin Genet. 2021 Dec;100(6):771-772. doi: 10.1111/cge.14046. Epub 2021 Aug 25.

Authors

Mélanie Eyries¹, Barbara Girerd², Laurent Savale², Florent Soubrier¹, Marc Humbert², David Montani²

Affiliations

¹ Sorbonne Université, AP-HP, Département de Génétique, INSERM UMR_S1166, Sorbonne Université, Institute for Cardiometabolism and Nutrition (ICAN), Hôpital Pitié-Salpêtrière, Paris, France.
² Department of Respiratory and Intensive Care Medicine, Université Paris-Saclay, AP-HP, INSERM UMR_S 999, Pulmonary Hypertension National Referral Centre, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.

PMID: 34435352
DOI: 10.1111/cge.14046

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Biomarkers
Cadherins / genetics*
Child
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Humans
Mutation*
Phenotype
Pulmonary Arterial Hypertension / diagnosis*
Pulmonary Arterial Hypertension / genetics*
Tomography, X-Ray Computed

Substances

Biomarkers
CELSR1 cadherin, human
Cadherins