Hemizygous <i>FGG</i> p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster-Reference-Cited by-同舟云学术

Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster

Published:2022-07-09 Issue:5 Volume:28 Page:
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Couzens Alexander¹^ORCID,Lebreton Aurélien²^ORCID,Masclaux Frédéric¹³,Guipponi Michel¹²³,Pebrel‐Richard Céline⁴,Laffargue Fanny⁵,Gembara Piotr⁶,Casini Alessandro⁷^ORCID,Neerman‐Arbez Marguerite¹^ORCID

Affiliation:

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

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14621

Reference10 articles.

1. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

3. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH

4. γAla82Gly represents a common fibrinogen γ-chain variant in Caucasians

5. World federation of hemophilia report on the annual global survey 2020;World Federation of Hemophilia;World Fed Hemoph,2021

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