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

developmental delays and intellectual disabilities. The molecular investigations revealed a novel homozygous variant c.1411G>A (p.Gly471Arg) in the GRM7 gene which was segregating with the disease in the family. Bioinformatic tools predicted its pathogenicity and docking analysis revealed its potential effects on mGlu7 protein binding to its ligand. CONCLUSION: Our results contribute to a better understanding of the impact of GRM7 variants for the newly described associated phenotype., .  et al. 0

, .  et al. 0

Hum Mol Genet. 1994 Jan, .  et al. 0

Gecz J

Moncla A, .  et al. 0

Milh M

N., .  et al. 0

M.; Bonnefond

P., .  et al. 0

M.; Villard

Büşranur, .  et al. 0

Florence; Field

M. P., .  et al. 0

S.; Villard

Hum Mol Genet. 1993 Sep, .  et al. 0

Gecz J

Clancy K, .  et al. 0

Gardiner K. "Gene. 1998 Mar 27;210(1):17-24. doi: 10.1016/s0378-1119(98)00032-8." Villard L Gene 1998 23/05/1998 10.1016/s0378-1119(98)00032-8