Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. [electronic resource]
- American journal of medical genetics Nov 2002
- 200-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.10752 doi
Adult Child Child, Preschool Craniosynostoses--complications DNA--chemistry DNA Mutational Analysis DNA-Binding Proteins--genetics Exons--genetics Eye Diseases--complications Family Health Genetic Predisposition to Disease--genetics Homeodomain Proteins Humans Limb Deformities, Congenital--complications Male Mutation Nuclear Proteins Protein-Tyrosine Kinases Receptor Protein-Tyrosine Kinases--genetics Receptor, Fibroblast Growth Factor, Type 1 Receptor, Fibroblast Growth Factor, Type 2 Receptor, Fibroblast Growth Factor, Type 3 Receptors, Fibroblast Growth Factor--genetics Transcription Factors--genetics Twist-Related Protein 1