Disease: Klippel Feil syndrome dominant type
- <em>GDF6</em> Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment
- Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents
- Congenital mirror movements
- Familial os odontoideum. Case report
- Families with recurrent cases of Waardenburg-Klein syndrome
- Klippel-Feil autosomal dominant syndrome: A malformation of vertebral segmentation
- Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis
- Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations
- Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
- Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene