which would constitute a previously undescribed mutational mechanism.", .  et al. 0

U., .  et al. 0

J.; Odent

deafness, .  et al. 0

and central hypomyelination

the duplication was found in 1.5% of South Carolinian newborn males, .  et al. 0

2.5% South Carolinian male college students

Cell. 1995 Mar 24, .  et al. 0

Gibbons RJ

, .  et al. 0

Laurent, .  et al. 0

Patrick J.; Lutz

respectively. We postulate that a gene might be disrupted by one of the breakpoints., .  et al. 0

and/or deafness. The male with CADDS had a severe neurological phenotype, .  et al. 0

but no cholestatic liver disease

, .  et al. 0

Genomics. 1995 Mar 1, .  et al. 0

Villard L

Gecz J. "Am J Med Genet. 2000 Mar 6, .  et al. 0

myo-inositol, .  et al. 0

vs. wild-type mice; p = 0.034); (ii) reduced choline phospholipid turnover in Mecp2-null vs. wild-type mice

E., .  et al. 0

F.; Richard

Sihem Ben, .  et al. 0

Fatma; Fakhfakh

have been found with multiple recurrences. Most of the mutations were de novo, .  et al. 0

except in one family where the non-affected transmitter mother exhibited a bias of X inactivation. Although this study showed that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases

J Med Genet. 1994 Apr, .  et al. 0

Clark PA

Corbani S, .  et al. 0

Cacciagli P

osmoregulation and neurotransmission in a mouse model of Rett syndrome. Combined with morphological and neurological findings, .  et al. 0

these results are crucial elements in providing mechanistic links between genotype and phenotype of Rett syndrome. Ultimately

, .  et al. 0