What's New on Genetics Home Reference

December 19, 2008

• Condition: infantile systemic hyalinosis
• Condition: juvenile hyaline fibromatosis
• Condition: mucopolysaccharidosis type I
• Condition: mucopolysaccharidosis type II
• Condition: Swyer syndrome
• Condition: 46,XX testicular disorder of sex development
• Gene: ANTXR2: anthrax toxin receptor 2
• Gene: DHH: desert hedgehog homolog (Drosophila)
• Gene: IDS: iduronate 2-sulfatase (Hunter syndrome)
• Gene: IDUA: iduronidase, alpha-L-
• Gene: NR5A1: nuclear receptor subfamily 5, group A, member 1
• Gene: SRY: sex determining region Y

December 16, 2008

• Condition: erythromelalgia
• Condition: fucosidosis
• Condition: Wiskott-Aldrich syndrome
• Condition: X-linked dystonia-parkinsonism
• Gene: FUCA1: fucosidase, alpha-L- 1, tissue
• Gene: SCN9A: sodium channel, voltage-gated, type IX, alpha subunit
• Gene: TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
• Gene: WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)

December 5, 2008

• Condition: aspartylglucosaminuria
• Condition: FG syndrome
• Condition: inclusion body myopathy 2
• Condition: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (also known as IBMPFD)
• Condition: oculopharyngeal muscular dystrophy
• Condition: sialuria
• Gene: AGA: aspartylglucosaminidase
• Gene: GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• Gene: MED12: mediator complex subunit 12
• Gene: PABPN1: poly(A) binding protein, nuclear 1
• Gene: VCP: valosin-containing protein

December 1, 2008

• Condition: blepharophimosis, ptosis, and epicanthus inversus syndrome (also known as BPES)
• Condition: myostatin-related muscle hypertrophy
• Gene: FOXL2: forkhead box L2
• Gene: MSTN: myostatin

More (the last 12 months)