A. E. Antunes da Silva

Unsupervised Phenotypic Stratification of 22q11.2 Deletion Syndrome for Improved Clinical Screening

Objective: 22q11.2 deletion syndrome (22q11DS) is the leading genetic cause of palatal anomalies, presenting a heterogeneous spectrum of clinical manifestations that complicates early diagnosis. No study has systematically investigated the co-occurrence of symptoms spanning cardiovascular, neuropsychiatric, craniofacia...