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

, .  et al. 0

called TBX22, .  et al. 0

is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH(2)-terminal re

characterize its clinical features, .  et al. 0

and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 individuals from nine unrelated

only one strain was toxigenic and this strain produced a single toxin, .  et al. 0

namely verotoxin 2.;2000-03;04/08/2025 08:04;04/08/2025 08:04;;217-222;;3;30;;Lett Appl Microbiol;;;;;;;;eng;;;;;;;Place: England PMID: 10747254

Brain Sci. 2021 Jul 14, .  et al. 0

Srivastava S

Vanni N, .  et al. 0

Cacciagli P

, .  et al. 0

, .  et al. 0

whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans., .  et al. 0

a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0