Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mélodie Moclyn"'
Autor:
Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems
Publikováno v:
Diagnostics, Vol 11, Iss 9, p 1636 (2021)
We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and
Externí odkaz:
https://doaj.org/article/e6a6cf451298483093b82e2edbc31bdc
Autor:
Anne-Françoise Roux, Marjolaine Willems, Michel Mondain, Christel Vaché, Catherine Blanchet, David Baux, Corinne Baudoin, Mélodie Moclyn, Luke Mansard, Camille Cenni, Valérie Faugère, Eric Jeziorski
Publikováno v:
Diagnostics
Diagnostics, Vol 11, Iss 1636, p 1636 (2021)
Diagnostics, Vol 11, Iss 1636, p 1636 (2021)
We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and