Spaendonk, R.M.L. van

patient syndrome mutation hypomyelination cutis gyrata fgfr 2 mutation gyrata tyr 375cys mutation craniosynostosi disease 2 patients beare-stevenson fgfr 2 gene disorder growth child factor receptor choanal atresia erasmus universiteit rotterdam 4 h syndrome acanthosis nigricans brain netherland choanal gyral diagnosis analysis 375cy department skull finitive diagnosis anomaly patient 1 dna analysis beare-stevenson syndrome neurology broblast children age 0–8 years j med genet simpli pattern birth myelin lipid synthesis fgfr 2-related bss cranial mri fgfr 2 naag elevation pelizaeus-merzbacher disease tonsillar herniation hypomyelinating myelin level umbilical stump feature abnormality finitive acanthosi nigrican oligodendrocyte cranial genet matter elevation group ser 372cys mutation csf naag center acetyl atresia radiologic fi ndings forehead vu university hypomyelinating disorders plp 1 duplication note cloverleaf-shaped skull reference pelizaeus-merzbacher-like disease t 2-weighted images