YEAR 2026 VOLUME 4 ISSUE 1
EditorialOpen Access
From Variants to Vision: Reframing Precision Medicine in Diverse Populations
This editorial emphasizes that true precision medicine can only be achieved when genomics is interpreted within the context of specific populations, healthcare systems, and clinical realities. Drawing on studies of thrombosis, rare sy...
Original researchOpen Access
High-grade serous ovarian cancer: from a Genetic perspective.
Introduction : In Mexico, ovarian cancer (OC) is the third leading cause of death from malingnant tumors in women aged 30 to 59. High-grade serous epithelial cell OC is the most frequent (70-80%). Its location, slow growth, and nonspecific synto...
Original researchOpen Access
Prevalence of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Variants in Patients and Controls in Panama
Background: Thrombosis is one of the leading causes of morbidity and mortality worldwide. Several genetic factors have been associated with increased thrombotic risk, including variants in Factor V Leiden (G1691A), prothrombin G20210A, and the ...
Case reportOpen Access
Craniofacial Microsomia in Cat-Eye Syndrome: Rethinking the formation mechanism through cytogenetic clues
The wide spectrum of clinical and morphological manifestations turns the diagnosis of Craniofacial microsomia tricky, even more so having the overlap of phenotype with other comorbidities such as Cat-eye Syndrome. The distinction is established b...
Case reportOpen Access
Severe neonatal Costello syndrome caused by a de novo HRAS p.Gly12Cys variant: the role of whole-exome sequencing in differential diagnosis
Background : Costello syndrome is an ultra-rare RASopathy caused by gain-of-function mutations in the HRAS proto-oncogene, leading to constitutive activation of the RAS/MAPK signaling pathway and characterized by distinctive craniofacial feature...
Literature ReviewOpen Access
Deletion of chromosome 22q11.2 and its origin
Deletion of chromosome 22q11.2 is a common disorder and a constant subject of inquiry due to its variable expressivity. Independently of severity, ranging from severe (DiGeorge syndrome) to milder manifestations, carriers may have children with m...