Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster
Haemophilia
.
2022 Sep;28(5):e132-e135.
doi: 10.1111/hae.14621.
Epub 2022 Jul 9.
Authors
Alexander Couzens
1
,
Aurélien Lebreton
2
,
Frédéric Masclaux
1
3
,
Michel Guipponi
1
2
3
,
Céline Pebrel-Richard
4
,
Fanny Laffargue
5
,
Piotr Gembara
6
,
Alessandro Casini
7
,
Marguerite Neerman-Arbez
1
Affiliations
1
Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
2
CHU Clermont-Ferrand, Service d'hématologie biologique, Clermont-Ferrand, France.
3
Medical Genetics Service, University Hospitals of Geneva, Geneva, Switzerland.
4
CHU Clermont-Ferrand, Service de cytogénétique médicale, Clermont-Ferrand, France.
5
CHU Clermont-Ferrand, Service de génétique médicale, Clermont-Ferrand, France.
6
CHU Clermont-Ferrand, Service de pédiatrie, Clermont-Ferrand, France.
7
Division of Angiology and Haemostasis, University Hospitals of Geneva, Geneva, Switzerland.
PMID:
35809055
DOI:
10.1111/hae.14621
No abstract available
Publication types
Letter
MeSH terms
Afibrinogenemia* / genetics
Fibrinogen / genetics
Fibrinogens, Abnormal* / genetics
Heterozygote
Humans
Multigene Family
Substances
Fibrinogens, Abnormal
Fibrinogen