## Abstract X‐linked VACTERL‐hydrocephalus syndrome (X‐linked VACTERL‐H) is a rare disorder caused by mutations in the gene __FANCB__ which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross‐linking agents. On
✦ LIBER ✦
SCA27 caused by a chromosome translocation: further delineation of the phenotype
✍ Scribed by D. Misceo; M. Fannemel; T. Barøy; R. Roberto; B. Tvedt; T. Jæger; V. Bryn; P. Strømme; E. Frengen
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 133 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1364-6745
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