Publication | Open Access

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Developmental AnomalyMendelian DisorderSclerodermaGenetic DisorderCraniofacial AnomaliesPathologyCraniofacial DevelopmentNeurologyLimited NumberNeuropathologyMedicineCraniofacial DisorderPfeiffer SyndromeSyndromic Craniosynostoses