Background Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a
rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with …

The ring 14 syndrome is a rare condition, whose precise clinical and genetic
characterization is still limited. This review summarizes literature data and it describes our …

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal
dysplasia with a prevalence of one per million births. The main causes of CCD are mutations …

Background The 17q21. 31 deletion syndrome phenotype can be caused by either
chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects …

MED13L haploinsufficiency has recently been described as responsible for syndromic
intellectual disability. We planned a search for causative gene variants in seven subjects …

Abstract Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation
associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho …

Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in
patients. The RAB39B gene has been reported to be mutated in ID patients with additional …

Objectives To evaluate the role of next generation sequencing in genetic diagnosis of
pediatric patients with persistent hypoglycemia. Study design Sixty-four patients investigated …

Background Glycogen storage disease type III (GSDIII) is caused by mutations of AGL gene
with debranching enzyme deficiency. Patients with GSDIII manifest fasting hypoglycemia …

Large-scale genomic structural variations can have significant clinical implications,
depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a …