Isabella Lopes Monlleó

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The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected(More)
Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of(More)
OBJECTIVE To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. METHODS Cross-sectional study of 1,068 medical records of patients(More)