Patient (condition)
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Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies. www.ncbi.nlm.nih.gov/mesh...
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Sep 01, 2012
One of a constellation of similar syndromes including VCFS, opitz g-bb-syndrome and digeorge syndrome with 22q11 2-deletion as the underlying genetic cause.
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Apr 17, 2012