Barge-Schaapveld, D.Q.C.M.

patient syndrome mutation cutis gyrata fgfr 2 mutation gyrata tyr 375cys mutation craniosynostosi fgfr 2 gene beare-stevenson growth factor receptor 2 patients choanal atresia acanthosis nigricans choanal gyral analysis 375cy patient 1 skull anomaly dna analysis beare-stevenson syndrome broblast j med genet simpli pattern birth fgfr 2-related bss feature cranial mri fgfr 2 tonsillar herniation umbilical stump abnormality acanthosi nigrican cranial genet ser 372cys mutation atresia radiologic fi ndings forehead note cloverleaf-shaped skull fig 2 hippocampu cloverleaf-shaped cloverleaf-shaped skull tyr 375cys hippocampal coronal barge-schaapveld centre literature development child ultrasound dutch stump report umbilical 2-related suture resonance imaging identi fied department prognosis coronal mri fgfr 3 hypoplasia bss patients dutch patients neurology pellicano f cutis gyratum hippocampal abnormalities fibroblast netherland