22q11.2 Deletion Syndrome / Di George / VCF by Obregón, María G.

“…These patients present: facial abnormalities (98,5%); congenital heart disease (78,7%); immune disturbance (64,2%); intellectual disabilities/learning delays (88%); palate defects (76,41%); hearing loss (34,5%); hypocalcemia (37%); renal abnormalities (12,38%). …”
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Rasopathies: Experience in the Genetics Department of Garrahan Hospital by Huckstadt, Victoria

“…The main features include facial dysmorphia, short stature, congenital heart disease (pulmonary stenosis, hypertrophic cardiomyopathy), short neck, intellectual disability (ID), hearing loss, lymphatic dysplasia, coagulation disorders, cryptorchidism, and an increased risk of cancer. …”
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