What's New on Genetics Home Reference

November 20, 2009

• Condition: 22q11.2 duplication
• Condition: ZAP70-related severe combined immunodeficiency
• Gene: ZAP70: zeta-chain (TCR) associated protein kinase 70kDa

November 16, 2009

• Condition: Miller-Dieker syndrome
• Gene: PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
• Gene: YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

November 6, 2009

• Condition: 16p11.2 deletion syndrome

October 30, 2009

• Condition: Jacobsen syndrome
• Condition: protein C deficiency
• Condition: protein S deficiency
• Gene: PROC: protein C (inactivator of coagulation factors Va and VIIIa)
• Gene: PROS1: protein S (alpha)

More (the last 12 months)