Disease: Klippel Feil syndrome recessive type
- A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions
- Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation
- Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents
- Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6
- Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome