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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Comorbidity C0020302|congenital glaucoma
Sentences 1
PubMedID- 24024747 A case of 22q11.2 deletion syndrome with peters anomaly, congenital glaucoma, and heterozygous mutation in cyp1b1.

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