모든 번역물

These interstitial deletions indicate that haploid sufficiency for 22q13 genes other than SHANK3 can have major effects on cognitive and language development.However,the relatively mild speech problems and normal cognitive abilities of a parent who transmitted her identical interstitial deletion to her more severely affected son suggests that the phenotype associated with this region may be more variable than terminal deletions and therefore contribute to the relative lack of correlation between