Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1) gene, some patients carry small intragenic deletions or point mutations in RAI1. We present data on two cases of Smith-Magenis syndrome with mutation of RAI1. Both cases are phenotypically consistent with SMS and RAI1 mutation but also have other anomalies not previously reported in SMS, including spontaneous pneumothoraces. These cases also illustrate variability in the SMS phenotype not previously shown for RAI1 mutation ...
<div><p>Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsuffi...
International audienceSmith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevel...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe in...
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is c...
Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...
Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency o...
Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...
Smith Magenis Syndrome (SMS) is a complex heterogeneous disorder, caused by RAI1 haploinsufficiency ...
Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis Syndrome (SMS) is a human genetic disorder that is caused by either a deletion within ...
<div><p>Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsuffi...
International audienceSmith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevel...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
International audienceSmith-Magenis syndrome (SMS) is an intellectual disability syndrome with sleep...
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe in...
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congeni...
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is c...
Mariateresa Falco,1,* Sonia Amabile,1,* Fabio Acquaviva2 1Department of Molecular Medicine and Medic...
Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency o...
Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resu...
Smith Magenis Syndrome (SMS) is a complex heterogeneous disorder, caused by RAI1 haploinsufficiency ...
Smith-Magenis Syndrome (SMS) [MIM:182290] is a genomic disorder caused by RAI1 gene haploinsufficien...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...
Smith-Magenis Syndrome (SMS) is a human genetic disorder that is caused by either a deletion within ...
<div><p>Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsuffi...
International audienceSmith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevel...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, beh...