Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

Authors :: Beneteau C
Thierry G
Blesson S
Le Vaillant C
Picard V
Béné MC
Eveillard M
Le Caignec C
Source :: Clinical genetics [Clin Genet] 2014 Mar; Vol. 85 (3), pp. 293-5. Date of Electronic Publication: 2013 Apr 14.
Publication Year :: 2014

Subjects :: Anemia, Hemolytic, Congenital diagnosis
Chromosome Segregation
Heterozygote
Humans
Hydrops Fetalis diagnosis
Hydrops Fetalis genetics
Pedigree
Phenotype
Anemia, Hemolytic, Congenital complications
Anemia, Hemolytic, Congenital genetics
Hydrops Fetalis etiology
Ion Channels genetics
Mutation

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