WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hearing impairment (LFSNHI) DFNA6/14. In addition, sev
Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history
✍ Scribed by Cristina Has; Daniele Castiglia; Marcela del Rio; Marta Garcia Diez; Eugenia Piccinni; Dimitra Kiritsi; Jürgen Kohlhase; Peter Itin; Ludovic Martin; Judith Fischer; Giovanna Zambruno; Leena Bruckner-Tuderman
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 409 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. MKS is genetically het
## Communicated by Sergio Ottolenghi Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-u