What's New on Genetics Home Reference

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)

October 23, 2009

• Condition: microphthalmia with linear skin defects syndrome
• Gene: HCCS: holocytochrome c synthase (cytochrome c heme-lyase)

October 9, 2009

• Condition: Diamond-Blackfan anemia
• Condition: VLDLR-associated cerebellar hypoplasia
• Gene: RPL5: ribosomal protein L5
• Gene: RPL11: ribosomal protein L11
• Gene: RPL35A: ribosomal protein L35a
• Gene: RPS7: ribosomal protein S7
• Gene: RPS17: ribosomal protein S17
• Gene: RPS19: ribosomal protein S19
• Gene: RPS24: ribosomal protein S24
• Gene: VLDLR: very low density lipoprotein receptor

October 2, 2009

• Condition: 17β-hydroxysteroid dehydrogenase type 10 deficiency (also known as HSD10 deficiency)
• Condition: 22q13.3 deletion syndrome
• Condition: Feingold syndrome
• Gene: HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
• Gene: MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
• Gene: SHANK3: SH3 and multiple ankyrin repeat domains 3

More (the last 12 months)