Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. We investigated a cohort of 15 individuals with a clinical suspicion of SMS who showed neither deletion in the SMS critical region nor damaging variants in RAI1 using whole exome sequencing. A combination of network analysis (co-expression and biomedical text mining), transcriptomics, and circularized chromatin conformation capture (4C-seq) was applied to verify whether modified genes are part of the same disease network as known SMS-causing genes. Potentially deleterious variants were identi...
Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep distur...
Smith Magenis Syndrome (SMS) is a complex heterogeneous disorder, caused by RAI1 haploinsufficiency ...
Smith-Magenis syndrome (SMS) is a type of mental retardation disorder associated with a deletion of ...
Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...
Abstract Background Smith-Magenis syndrome (SMS) is a...
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...
Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR)...
Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...
Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...
The retinoic acid induced 1 (RAI1) gene maps within the Smith-Magenis syndrome (SMS) region on chrom...
International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...
Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 ...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep distur...
Smith Magenis Syndrome (SMS) is a complex heterogeneous disorder, caused by RAI1 haploinsufficiency ...
Smith-Magenis syndrome (SMS) is a type of mental retardation disorder associated with a deletion of ...
Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...
Abstract Background Smith-Magenis syndrome (SMS) is a...
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...
Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR)...
Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...
Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...
The retinoic acid induced 1 (RAI1) gene maps within the Smith-Magenis syndrome (SMS) region on chrom...
International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...
Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 ...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep distur...
Smith Magenis Syndrome (SMS) is a complex heterogeneous disorder, caused by RAI1 haploinsufficiency ...
Smith-Magenis syndrome (SMS) is a type of mental retardation disorder associated with a deletion of ...