Tag: EFTUD2 gene


LASTHCNIC DE FERJOL SYNDROME

Introduction and Historical Context Lasthcnic de Ferjol Syndrome (LdFS) is classified as an extremely rare, severe, congenital genetic disorder, primarily characterized by a complex array of malformations affecting the head, face, and the overall musculoskeletal system. Recognizing the profound impact of this condition requires an understanding of its genetic underpinnings and its devastating clinical consequences. […]

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