Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Aslıhan Sanrı"'
Publikováno v:
Molecular Syndromology. 14:129-135
Introduction: Brittle cornea syndrome (BCS) is a rare connective tissue disorder with ocular and systemic features. Extreme corneal thinning and fragility are the main hallmarks of BCS. Case Report: A 4-year-old boy presented with recurrent spontaneo
Autor:
Selma Demir, Hümeyra Yaşar Köstek, Aslıhan Sanrı, Ruken Yıldırım, Fatma Özgüç Çömlek, Sinem Yalçıntepe, Murat Deveci, Emine İkbal Atlı, Engin Atlı, Damla Eker, Hakan Gürkan, Filiz Tütüncüler Kökenli
Publikováno v:
Molecular Syndromology. 13:88-98
Introduction: Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present th
Autor:
Selma, Demir, Hümeyra, Yaşar Köstek, Aslıhan, Sanrı, Ruken, Yıldırım, Fatma, Özgüç Çömlek, Sinem, Yalçıntepe, Murat, Deveci, Emine İkbal, Atlı, Engin, Atlı, Damla, Eker, Hakan, Gürkan, Filiz, Tütüncüler Kökenli
Publikováno v:
Mol Syndromol
INTRODUCTION: Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present th