Passos-Bueno, Maria Rita

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