Die-Smulders, C. de

mutation patient hydrocephalu syndrome deletion genetic family genet table stickler feature analysis col 2a mutation carrier stickler syndrome p.a 467t mutation department frameshift study holoprosencephaly university codon polg mutations p.gly netherland abnormality figure cause mitochondrial variant score p.arg substitution nonsense brain journal group polymerase cleft novel recessive european phenotype sensorineural hearing loss col 2a gene identi fied effect anomaly processing index sequence domain fication failure disorder retardation epilepsy cleft palate european journal genotype –phenotype correlations parent spectrum j med genet l 1 syndrome semilobar system family history splice liver failure alpers syndrome family details detachment missense center identi liver defect hospital sister fetus