Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF
✦ LIBER ✦
Mutations in PAX1 may be associated with Klippel–Feil syndrome
✍ Scribed by McGaughran, J M; Oates, A; Donnai, D; Read, A P; Tassabehji, M
- Book ID
- 110025400
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 886 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1018-4813
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